357 results match your criteria Eyelid Coloboma


The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

Am J Med Genet A 2018 Dec 10. Epub 2018 Dec 10.

Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.

The oculoauriculofrontonasal syndrome (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (widely spaced eyes, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spectrum (OAVS)-associated features, such as preauricular ear tags, ear dysplasia, mandibular asymmetry, epibulbar dermoids, eyelid coloboma, and costovertebral anomalies. The etiology is unknown so far. This work aimed to identify molecular bases for the OAFNS. Read More

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http://dx.doi.org/10.1002/ajmg.a.40662DOI Listing
December 2018

Modified everting sutures: an alternative treatment for mild to moderate epiblepharon.

Br J Ophthalmol 2018 Nov 17;102(11):1510-1514. Epub 2018 Apr 17.

Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.

Purpose: To describe a modified everting suture procedure which can be used in patients with mild to moderate epiblepharon who are undergoing general anaesthesia for surgical correction of coexisting ophthalmic conditions.

Methods: A prospective, interventional, non-comparative case series on patients with mild to moderate epiblepharon who underwent the modified everting suture procedure using permanent nylon sutures while under general anaesthesia for other ophthalmic surgery, from May 2014 to May 2016, in a single tertiary institution. Main outcome measures were correction of epiblepharon, recurrence rate and complications. Read More

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http://dx.doi.org/10.1136/bjophthalmol-2017-311683DOI Listing
November 2018
3 Reads

Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation.

Biochem Biophys Res Commun 2018 04 21;499(1):78-85. Epub 2018 Mar 21.

Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0392, Japan; Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan. Electronic address:

Treacher Collins syndrome (TCS) is a craniofacial developmental disorder whose key feature is a combination of symptoms. For example, a patient could have bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, and atresia of the external auditory canals. TCS3 is caused by mutations of the polr1c gene, which encodes RNA polymerase I and III subunit C (POLR1C). Read More

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http://dx.doi.org/10.1016/j.bbrc.2018.03.136DOI Listing
April 2018
5 Reads

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.

Am J Med Genet A 2018 02 22;176(2):477-482. Epub 2017 Dec 22.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Elsahy-Waters syndrome (EWS), also known as branchial-skeletal-genital syndrome, is a distinct dysmorphology syndrome characterized by facial asymmetry, broad forehead, marked hypertelorism with proptosis, short and broad nose, midface hypoplasia, intellectual disability, and hypospadias. We have recently published a homozygous potential loss of function variant in CDH11 in a boy with a striking resemblance to EWS. More recently, another homozygous truncating variant in CDH11 was reported in two siblings with suspected EWS. Read More

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http://dx.doi.org/10.1002/ajmg.a.38568DOI Listing
February 2018
7 Reads

A 5-day-old-newborn with a large right upper eyelid coloboma.

Digit J Ophthalmol 2017;23(3):88-91. Epub 2017 Sep 28.

Cleveland Clinic Cole Eye Institute, Cleveland, Ohio.

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http://dx.doi.org/10.5693/djo.03.2017.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683440PMC
June 2018
9 Reads

Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome.

Arch Pediatr 2017 Oct 15;24(10):1000-1004. Epub 2017 Sep 15.

Nutrition et gastroentérologie pédiatriques, hôpital Trousseau, AP-HP, 26, avenue du Dr-Netter, 75012 Paris, France. Electronic address:

Background: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12. Read More

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http://dx.doi.org/10.1016/j.arcped.2017.07.004DOI Listing
October 2017
6 Reads

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

Eur J Med Genet 2017 Mar 19;60(3):190-194. Epub 2017 Jan 19.

Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico. Electronic address:

Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinically characterized by a variable spectrum of eyelid malformations, aberrant hairline, bifid or broad nasal tip, and gastrointestinal anomalies. In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305 A > G, p. Read More

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http://dx.doi.org/10.1016/j.ejmg.2017.01.005DOI Listing
March 2017
5 Reads

Chromosome 11q13 deletion syndrome.

Korean J Pediatr 2016 Nov 30;59(Suppl 1):S10-S13. Epub 2016 Nov 30.

Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the gene on chromosome 11q13. Read More

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http://dx.doi.org/10.3345/kjp.2016.59.11.S10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177688PMC
November 2016
21 Reads

Anthropometrically-Based Surgical Technique for Tessier 3 Cleft Reconstruction.

J Craniofac Surg 2016 Nov;27(8):e785-e787

Division of Plastic Surgery, Department of Surgery, University of Oklahoma Health Sciences Center, Oklahoma City, OK.

Craniofacial clefts are rare entities, with an incidence reported as 1.43 to 4.85 per 100,000 births. Read More

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http://dx.doi.org/10.1097/SCS.0000000000003129DOI Listing
November 2016
20 Reads

Congenital Arhinia: A Rare Case Report and Review of Literature.

Indian J Otolaryngol Head Neck Surg 2016 Dec 8;68(4):537-539. Epub 2016 Jul 8.

Department of Neonatology, IPGME&R and SSKM Hospital, Kolkata, 700020 India.

Congenital absence of nose (Arhinia) is extremely rare. A male baby was born at term via uncomplicated vaginal delivery and presented with complete arhinia, bilateral microphthalmia, lower eyelid coloboma and feeding difficulty. Reconstructive surgery was postponed until preschool age. Read More

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http://dx.doi.org/10.1007/s12070-016-1009-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083650PMC
December 2016
4 Reads

Pendular eyelid flap: a novel technique for the management of extensive congenital upper lid colobomas.

J AAPOS 2017 02 31;21(1):64-66. Epub 2016 Oct 31.

2nd Department of Ophthalmology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.

We present a novel technique for the surgical management of sizeable medial upper eyelid colobomas that entails advancement of an ipsilateral upper lid flap sustained by a levator aponeurosis-Müller-conjunctiva pedicle and combined with a lateral semicircular flap from the affected lid. The technique was used in 4 consecutive pediatric patients of mean age 21.2 months and mean coloboma size 12. Read More

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http://dx.doi.org/10.1016/j.jaapos.2016.08.009DOI Listing
February 2017
6 Reads

Large upper eyelid coloboma repair: a one-stage, one-site technique.

J AAPOS 2016 10 21;20(5):459-461. Epub 2016 Sep 21.

Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts. Electronic address:

Current techniques for repairing large eyelid colobomas require preparation of other tissue sites and occasionally more than one procedure. We present a technique that requires only one procedure and is limited to the colobomatous eyelid; in addition, it is specifically designed to help avoid postoperative astigmatic and obstructive amblyopia. Outcomes are demonstrated in 3 cases of hemifacial microsomia. Read More

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http://dx.doi.org/10.1016/j.jaapos.2016.05.018DOI Listing
October 2016
4 Reads

Congenital Bilateral Coloboma of Upper Eyelid.

Kathmandu Univ Med J (KUMJ) 2016 Oct.-Dec.;14(56):367-369

Department of Ophthalmology, Fellow in cornea in Arvind Eye Hospital, India.

Congenital coloboma of eyelid is a rare anomaly. There is partial or total absence of eyelid structures. A seven year male child had coloboma of both the upper lids lateral to lacrimal puctum affecting the medial half of lid symmetrically with symblepharon in region of defect bilaterally. Read More

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January 2018
3 Reads

Viable Ednra mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.

Mamm Genome 2016 12 26;27(11-12):587-598. Epub 2016 Sep 26.

Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr.1, 85764, Neuherberg, Germany.

Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin receptor type A gene (Ednra c.386A>T, p. Read More

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http://dx.doi.org/10.1007/s00335-016-9664-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110705PMC
December 2016
43 Reads

Total Upper Eyelid Reconstruction with Modified Cutler-Beard Procedure Using Autogenous Auricular Cartilage.

J Clin Diagn Res 2016 Aug 1;10(8):NC01-4. Epub 2016 Aug 1.

Assistant Professor, Department of Ophthalmology, University of Tennessee Health Science Center, Hamilton Eye Institute , United States .

Introduction: Malignant tumour in upper lid is a surgical challenge to oculoplastic surgeon. Full thickness defect created after removal of large tumour promptly treated with modified cutler beard procedure using autogenous auricular cartilage. Surgical procedure is two staged: In first stage, removal of the tumour followed by full thickness flap repaired; In second stage, opening the closed lid with lid margin repair. Read More

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http://dx.doi.org/10.7860/JCDR/2016/20303.8239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5028545PMC
August 2016
22 Reads

Free tarsomarginal graft for large congenital coloboma repair in patients with Tessier number 10 clefts.

J Plast Reconstr Aesthet Surg 2016 Aug 4;69(8):1046-51. Epub 2016 May 4.

Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai 200011, People's Republic of China. Electronic address:

Aim: The aim of this study was to evaluate the long-term outcome when a free tarsomarginal graft is used to repair a large congenital coloboma in patients with a Tessier number 10 cleft.

Materials And Methods: This was a retrospective, interventional case series. The medical records were reviewed for five children (six eyes) diagnosed as having Tessier number 10 cleft with large upper eyelid defects and symblepharon. Read More

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http://dx.doi.org/10.1016/j.bjps.2016.04.009DOI Listing
August 2016
5 Reads

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome.

Am J Med Genet A 2016 07 3;170(7):1934-7. Epub 2016 May 3.

Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.

Nasopalpebral lipoma-coloboma syndrome (NPLCS, OMIM%167730) is an uncommon malformation entity with autosomal dominant inheritance characterized by the combination of nasopalpebral lipoma, colobomas in upper and lower eyelids, telecanthus, and maxillary hypoplasia. To date, no genetic defects have been associated with familial or sporadic NPLCS cases and the etiology of the disease remains unknown. In this work, the results of whole exome sequencing in a sporadic NPLCS patient are presented. Read More

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http://dx.doi.org/10.1002/ajmg.a.37683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618706PMC
July 2016
11 Reads

State of the Art in Congenital Eyelid Deformity Management.

Facial Plast Surg 2016 Apr 20;32(2):142-9. Epub 2016 Apr 20.

Department of Ophthalmology and Vision Science, University of California Davis Health System Eye Center, Sacramento, California.

The eyelids are crucial in maintaining the health of the ocular surface and have an important role in facial aesthetics. Interruption in eyelid development can lead to congenital eyelid deformities. This article reviews eyelid anatomy, the most common congenital eyelid abnormalities such as congenital ptosis, eyelid coloboma, and epiblepharon, and the management of these conditions. Read More

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http://dx.doi.org/10.1055/s-0036-1581049DOI Listing
April 2016
6 Reads

[About Cryptophthalmos (2nd Czech Study)].

Cesk Slov Oftalmol Winter 2015;71(6):278-86

Aim: To get acquainted with the 2nd Czech study about cryptophthamos and with self-surgical methods.

Material: The boy with unilateral complete cryptophthalmos of left eye was treated from 2 to 20 years. The girls was treated from 4 month to 5 year yet for right abortive cryptophthalmos with microblepharon and left complete type still waiting for solutions. Read More

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December 2017
2 Reads

Prenatal diagnosis of Fraser syndrome: a matter of life or death?

Ital J Pediatr 2015 Nov 9;41:86. Epub 2015 Nov 9.

Pediatrician Systematic, AORN Santobono-Pausilipon, Napoli, Italy.

Background: Fraser Syndrome is a rare, autosomal recessive syndrome. It's characterized primarily by cryptophthalmos, syndactyly and urogenital malformation. Respiratory malformations are frequently present and not taken into account. Read More

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http://www.ijponline.net/content/pdf/s13052-015-0195-6.pdf
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http://www.ijponline.net/content/41/1/86
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http://dx.doi.org/10.1186/s13052-015-0195-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640198PMC
November 2015
9 Reads

Congenital Upper Eyelid Coloboma: Clinical and Surgical Management.

Case Rep Ophthalmol Med 2015 23;2015:286782. Epub 2015 Aug 23.

Department of Ophthalmology, San Cecilio University Hospital, Avenida Dr. Olóriz 16, 18012 Granada, Spain.

Purpose. The goal was to describe our experience in the surgical management and treatment of four patients with congenital upper eyelid colobomas. Methods. Read More

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http://downloads.hindawi.com/journals/criopm/2015/286782.pdf
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http://www.hindawi.com/journals/criopm/2015/286782/
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http://dx.doi.org/10.1155/2015/286782DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561100PMC
September 2015
5 Reads

Early Fat Grafting for Augmentation of Orbitozygomatic Region in Treacher Collins Syndrome.

J Craniofac Surg 2015 Jun;26(4):1258-60

*Department of Plastic Surgery, University of Tennessee, Memphis, TN †Craniofacial Unit, Department of Pediatric Neurosurgery, Necker Hospital, Paris, France.

This report presents our preliminary experience with the effect of early fat grafting (FG) (at ≥ 6 months of age) in timely bone reconstruction of the orbitozygomatic area in patients with Treacher Collins syndrome. FG is performed 2 to 3 consecutive times after the age 6 months. Bone reconstruction is performed ≥ 6 months after the last FG session. Read More

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http://dx.doi.org/10.1097/SCS.0000000000001722DOI Listing

Ascher's syndrome: A rare case report.

Indian J Ophthalmol 2015 Mar;63(3):264-7

Department of Ophthalmology, Shyam Shah Medical College, Rewa, Madhya Pradesh, India.

An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Read More

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http://dx.doi.org/10.4103/0301-4738.156933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4448243PMC
March 2015
4 Reads

[Upper eyelid congenital coloboma, aethiology pathogenesis and management].

Rev Stomatol Chir Maxillofac Chir Orale 2015 Jun 8;116(3):147-52. Epub 2015 Apr 8.

Service de chirurgie maxillo-faciale, groupement hospitalier Nord, université Claude-Bernard Lyon 1, 93, Grande Rue de la Croix-Rousse, 69004 Lyon, France.

Coloboma of the upper eyelid is a rare congenital disease. It is defined as an agenesis of the eyelid free edge. Multiple patho-physiological theories exist about its etiology. Read More

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http://dx.doi.org/10.1016/j.revsto.2015.02.005DOI Listing
June 2015
3 Reads

Orbital soft tissue surgery for patients with Treacher-Collins or Nager syndrome. A new surgical approach with early correction of soft tissue: prospective study.

Br J Oral Maxillofac Surg 2015 May 21;53(5):421-5. Epub 2015 Mar 21.

Department of Maxillofacial and Plastic Surgery, Hôpital Necker-Enfants Malades, 75015 Paris, France; Centre de Référence des Malformations Rares de la Face de la Cavite Buccale, MAFACE, 75015 Paris, France; Université Paris 5, Faculté de Médecine Paris-Descartes, 75005 Paris, France.

Orbitopalpebral anomalies in mandibulofacial dysostosis (Treacher-Collins syndrome) can be difficult to correct surgically and most authors recommend correction of the malar bone after the age of 8 years. We propose a new, early surgical approach for periorbital defects that involves initial implantation of autologous fat and subperiosteal malar lift with a pedicled upper eyelid flap. We prospectively studied 5 children, 3 of whom had previously had orbital reconstruction. Read More

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http://dx.doi.org/10.1016/j.bjoms.2015.02.004DOI Listing
May 2015
1 Read

Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature.

Child Neurol Open 2015 Jan-Mar;2(1):2329048X14553297. Epub 2015 Feb 13.

Department of Pediatrics, Makassed General Hospital, Beirut, Lebanon.

Encephalocraniocutaneous lipomatosis or Haberland syndrome is a rare, congenital neurocutaneous syndrome. It is characterized by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye and ipsilateral neurologic malformations. We describe the first case from Lebanon, an infant with classical encephalocraniocutaneous lipomatosis characterized by nevus psiloliparus, unilateral right facial and frontal-temporal subcutaneous lipomas, alopecia, ocular coloboma, aniridia and eyelid nodular tags, ventriculomegaly with intracranial and intraspinal lipomas, and tethered spinal cord. Read More

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http://dx.doi.org/10.1177/2329048X14553297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417016PMC
February 2015
8 Reads
1 Citation

Delleman Oorthuys syndrome.

Middle East Afr J Ophthalmol 2015 Jan-Mar;22(1):122-4

Department of Ophthalmology, Institute of Ophthalmology, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India.

Oculocerebrocutaneous or Delleman syndrome is a rare congenital syndrome characterized by microphthalmia/anophthalmia with or without orbital cysts, focal skin defects, intracranial cysts and skin appendages. We here report a case of 1-year-old male child with periocular skin tags, lid colobomas, and dermal hypoplasia. The patient had delayed developmental milestones and history of tonic-clonic seizures. Read More

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http://dx.doi.org/10.4103/0974-9233.148363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302468PMC
April 2015
10 Reads

The incidence, embryology, and oculofacial abnormalities associated with eyelid colobomas.

Eye (Lond) 2015 Apr 23;29(4):492-8. Epub 2015 Jan 23.

Adnexal Service, Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, UK.

Purpose: To describe a cohort of patients with congenital eyelid coloboma, to identify associated ocular and craniofacial abnormalities, and to establish any correlation between the size and location of eyelid colobomas and the presence of such abnormalities.

Methods: An observational case series of 55 patients with eyelid coloboma treated by a single surgeon (JROC) between 1985 and 2005.

Results: Eyelid colobomas predominantly affected the upper lids (93%), and were typically unilateral (76%). Read More

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http://dx.doi.org/10.1038/eye.2014.335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4816363PMC
April 2015
2 Reads

Upper Eyelid Coloboma Repair Using Accessory Preauricular Cartilage in a Patient With Goldenhar Syndrome: Technique Revisited.

Ophthalmic Plast Reconstr Surg 2017 Jan/Feb;33(1):e4-e7

*Division of Plastic Surgery, Children's National Medical Center, Washington, D.C.; and †Eye Associates of Washington, D.C., P.C., Washington, D.C., U.S.A.

We present an unusual case of upper eyelid coloboma repair in a patient with Goldenhar syndrome. We describe the use of a modified Cutler-Beard flap with concurrent inlay graft using cartilage from a preauricular appendage. This technique provides the benefits of autologous tissue, while minimizing donor site morbidity and reducing the risk of upper eyelid retraction. Read More

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http://Insights.ovid.com/crossref?an=00002341-201701000-0002
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http://dx.doi.org/10.1097/IOP.0000000000000360DOI Listing
March 2017
2 Reads

Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis.

Am J Pathol 2015 Jan 3;185(1):197-213. Epub 2014 Nov 3.

Departments of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah. Electronic address:

Wnt glycoproteins control key processes during development and disease by activating various downstream pathways. Wnt secretion requires post-translational modification mediated by the O-acyltransferase encoded by the Drosophila porcupine homolog gene (PORCN). In humans, PORCN mutations cause focal dermal hypoplasia (FDH, or Goltz syndrome), an X-linked dominant multisystem birth defect that is frequently accompanied by ocular abnormalities such as coloboma, microphthalmia, or even anophthalmia. Read More

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http://dx.doi.org/10.1016/j.ajpath.2014.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278246PMC
January 2015
6 Reads

Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.

Ophthalmic Plast Reconstr Surg 2015 Jan-Feb;31(1):1-12

*Department of Ophthalmology, Ain Shams University, Cairo, Egypt; and †Ain Shams University, Cairo, Egypt.

Purpose: To review the recent literature and describe the authors' experience with congenital upper eyelid coloboma.

Methods: In this review, we will summarize the embryologic and etiopathogenetic bases of congenital upper eyelid coloboma, and study the published clinical reports. We will also attempt to briefly shed some light on the rarer syndromic curiosities associated with upper eyelid coloboma. Read More

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http://dx.doi.org/10.1097/IOP.0000000000000347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334304PMC
June 2015
2 Reads

[Coloboma of the upper eyelid].

Pan Afr Med J 2014 25;17:132. Epub 2014 Feb 25.

Université Mohammed V Souissi, Service d'Ophtalmologie A de l'Hôpital des Spécialités, Centre Hospitalier Universitaire, Rabat, Maroc.

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http://dx.doi.org/10.11604/pamj.2014.17.132.4006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4218649PMC

Delleman (oculocerebrocutaneous) syndrome: case report.

Indian J Ophthalmol 2014 Jun;62(6):741-3

Department of Ophthalmology, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.

Delleman syndrome is an unusual entity, characterized by ocular cysts or microphthalmia, focal dermal anomalies and cerebral malformations. In the following article, we carry out a review of the disease and we present the case of a patient with microphthalmos and palpebral coloboma. As we could not put orbital expanders at an early stage, we performed reconstructive surgery. Read More

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http://dx.doi.org/10.4103/0301-4738.136277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131337PMC
June 2014
5 Reads

Encephalocraniocutaneous lipomatosis: a case report and review of the literature.

Indian J Ophthalmol 2014 May;62(5):622-7

Department of Ophthalmology, Shyam Shah Medical College, Rewa, Madhya Pradesh, India.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare, sporadic congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues, such as skin, eyes, and central nervous system. A 3-day-old girl presented with swelling in her right eye since birth. Ocular examination of the right eye showed hypertrophy of bulbar conjunctiva with limbal dermoid, clouding of cornea, and atypical upper eyelid coloboma. Read More

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http://dx.doi.org/10.4103/0301-4738.133521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065518PMC
May 2014
3 Reads

Heminasal agenesis: a reconstructive challenge.

J Craniofac Surg 2014 May;25(3):e239-41

From the Departments of Plastic and Reconstructive Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Heminasal agenesis is a rare congenital malformation often associated with deformities of the eyes and lacrimal system, midface, and proboscis lateralis. Reconstruction is especially challenging because of missing lining, cartilage, and skin. We present a case of heminasal agenesis in a 5-year-old girl with concomitant hypertelorism, coloboma of the eyelids, and maxillary hypoplasia. Read More

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http://dx.doi.org/10.1097/SCS.0000000000000542DOI Listing
May 2014
2 Reads

Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography.

Genet Couns 2013 ;24(3):319-25

Department of Radiology, Mustafa Kemal University, Faculty of Medicine, Hatay, Turkey.

Oculoauriculo-vertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, and mandible) and spinal anomalies. We report a patient with unusual features diagnosed prenatally by 3D ultrasonography at 21 weeks' gestation without a family history. An early diagnosis was suggested by observation of a maxillary cleft-plate, multiple vertebral segmentation defects and hypoplastic thumb. Read More

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January 2014
2 Reads

Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype.

Birth Defects Res A Clin Mol Teratol 2013 Dec 29;97(12):774-80. Epub 2013 Nov 29.

1st Department of Pathology, School of Medicine, University of Athens, Athens, Greece.

Background: Treacher Collins syndrome is the most common mandibulofacial dysostosis of autosomal dominant or, rarely, recessive inheritance. Affected fetuses may be identified by prenatal ultrasound or diagnosed at autopsy in case of perinatal death or pregnancy termination.

Methods: We describe the ultrasonographic, autopsy, and molecular findings in a 25-week-gestation affected fetus, and review the clinical, prenatal, and postmortem findings in 15 previously reported fetal and perinatal cases. Read More

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http://doi.wiley.com/10.1002/bdra.23202
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http://dx.doi.org/10.1002/bdra.23202DOI Listing
December 2013
3 Reads

Heminasal proboscis, a rare craniofacial cleft.

J Craniofac Surg 2014 Jan;25(1):e7-9

From the *Iran University of Medical Sciences and Health Services, Fatemeh Hospital, Tehran, Iran; †Family Practice, Davis University, Modesto, California; ‡Michigan Medical University, Ann Arbor, Michigan; and §Shahid Sadogi Yazd University of Medical Sciences and Health Services, Shahid Sadogi Yazd Hospital, Yazd, Iran.

Craniofacial clefts are extremely rare congenital anomalies, the importance of which lies in their great range of variety of anatomic forms and their complex management. Proboscis is one of the rare cases of this kind in which half of the nose is separated from the face and it is only pedicled on the right or left medial canthal regions by a nose-like, rudimentary tubular structure. This article reports the case of a 3-month-old infant with left-sided proboscis. Read More

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http://dx.doi.org/10.1097/SCS.0b013e3182a2ec3aDOI Listing
January 2014
4 Reads

Reconstruction of a congenital upper eyelid coloboma using a lamellar-based technique.

Ophthalmic Plast Reconstr Surg 2014 Jul-Aug;30(4):e95-6

*Department of Ophthalmology, Aichi Medical University, Nagakute, Aichi, Japan; †Department of Ophthalmology, Korea University College of Medicine, Ansan, Korea; and ‡Department of Plastic Surgery, Kobe University School of Medicine, Kobe, Hyogo, Japan.

A 17-year-old woman presented with a left upper eyelid coloboma from birth, extending from the lateral side of the punctum to the center of the eyelid as much as 10 mm in width. The posterior lamella (tarsus) was lost completely in this area, but an anterior lamella defect was limited to 1 to 2 mm in height. The area was devoid of eyelashes. Read More

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http://dx.doi.org/10.1097/IOP.0b013e3182a22b90DOI Listing

Congenital left upper eyelid coloboma.

J Indian Med Assoc 2013 Jan;111(1):69

Department of Anatomy, Gauhati Medical College, Guwahati 781032, India.

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January 2013
2 Reads

Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case.

Am J Med Genet A 2013 Jun 1;161A(6):1470-4. Epub 2013 May 1.

Department of Genetics, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico.

Nasopalpebral lipoma-coloboma syndrome is an extremely uncommon autosomal dominant condition characterized by congenital upper eyelid and nasopalpebral lipomas, colobomata of upper and lower eyelids, telecanthus, and maxillary hypoplasia. A few familial and sporadic cases of this malformation syndrome have been previously reported. Here, the clinical, radiological, and histopathological features of a sporadic Mexican patient with the nasopalpebral lipoma-coloboma syndrome are described. Read More

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http://dx.doi.org/10.1002/ajmg.a.35916DOI Listing
June 2013
15 Reads

Limbal dermoid in Nager acrofacial dysostosis: a rare case report.

Indian J Ophthalmol 2014 Mar;62(3):339-41

Department of Oral Medicine and Radiology, Subharti Dental College and Hospital, Meerut, Uttar Pradesh, India.

Nager syndrome, also called preaxial acrofacial dysostosis, comprises two groups of defects involving the limbs and craniofacial region, respectively. This syndrome is rare and only 70 cases have been reported in the literature. The exact cause of this syndrome is unknown, but there is indication that it is genetically based. Read More

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http://dx.doi.org/10.4103/0301-4738.111194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4061675PMC
March 2014
9 Reads
0.930 Impact Factor

Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome.

J Plast Reconstr Aesthet Surg 2013 Aug 21;66(8):e217-26. Epub 2013 Apr 21.

Department of Plastic, Reconstructive and Hand Surgery, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

Aim: This study aimed to determine which facial features and functions need more attention during surgical treatment of Treacher Collins syndrome (TCS) in the long term.

Method: A cross-sectional cohort study was conducted to compare 23 TCS patients with 206 controls (all≥18 years) regarding satisfaction with their face. The adjusted Body Cathexis Scale was used to determine satisfaction with the appearance of the different facial features and functions. Read More

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http://dx.doi.org/10.1016/j.bjps.2013.03.029DOI Listing
August 2013
4 Reads

Human facial dysostoses.

Authors:
D Wieczorek

Clin Genet 2013 Jun 8;83(6):499-510. Epub 2013 Apr 8.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

The human facial dysostoses can be subdivided into mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs). The craniofacial phenotypes of the two groups of patients are similar. Both types are thought to be related to abnormal migration of neural crest cells to the pharyngeal arches and the face. Read More

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http://dx.doi.org/10.1111/cge.12123DOI Listing
June 2013
7 Reads

Changing the facial features of patients with Treacher Collins syndrome: protocol for 3-stage treatment of hard and soft tissue hypoplasia in the upper half of the face.

Ann Plast Surg 2014 Jul;73(1):39-42

From the *Department of Plastic, Reconstructive and Aesthetic Surgery, Faculty of Medicine, Chiba University, Chiba; and †Department of Plastic and Reconstructive Surgery, St. Mary's Hospital, Fukuoka, Japan.

Treacher Collins syndrome is a disorder characterized by various congenital soft tissue anomalies involving hypoplasia of the zygoma, maxilla, and mandible. A variety of treatments have been reported to date. These treatments can be classified into 2 major types. Read More

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http://dx.doi.org/10.1097/SAP.0b013e31826eaa3eDOI Listing
July 2014
3 Reads

Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.

Am J Med Genet A 2013 Mar 8;161A(3):473-8. Epub 2013 Feb 8.

Division of Genetics, Department of Pediatrics, University of California, San Francisco, California 94143-0748, USA.

Loss of function mutations in FREM1 have been demonstrated in Manitoba-oculo-tricho-anal (MOTA) syndrome and Bifid Nose Renal Agenesis and Anorectal malformations (BNAR) syndrome, but the wider phenotypic spectrum that is associated with FREM1 mutations remains to be defined. We screened three probands with phenotypic features of MOTA syndrome. In one severely affected infant who was diagnosed with MOTA syndrome because of bilateral eyelid colobomas, a bifid nasal tip, hydrometrocolpos and vaginal atresia, we found two nonsense mutations that likely result in complete loss of FREM1 function. Read More

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http://dx.doi.org/10.1002/ajmg.a.35736DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581754PMC
March 2013
4 Reads