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    293 results match your criteria Eyelid Coloboma

    1 OF 6

    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

    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 FGF3 gene on chromosome 11q13. Read More

    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

    Pendular eyelid flap: a novel technique for the management of extensive congenital upper lid colobomas.
    J AAPOS 2017 Feb 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

    Large upper eyelid coloboma repair: a one-stage, one-site technique.
    J AAPOS 2016 Oct 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

    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

    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

    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 Jul 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

    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

    [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

    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

    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

    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

    [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

    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

    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

    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

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

    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

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

    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

    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

    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

    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

    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

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

    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

    Human facial dysostoses.
    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

    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

    Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs.
    Vet Ophthalmol 2013 Jul 6;16 Suppl 1:130-4. Epub 2012 Dec 6.
    Department of Ophthalmology, University of Copenhagen, Glostrup Hospital, Glostrup, Denmark.
    Two sibling snow leopards, a male and a female, with bilateral anterior segment dysgenesis (ASD), are reported. Both snow leopards also had colobomas of both upper eyelids. All eyes exhibited a central corneal opacity associated with a defect in posterior corneal stroma, endothelium and Descemet's membrane. Read More

    Congenital accessory palpebral aperture--an addition to the spectrum of Delleman syndrome.
    Ophthalmic Genet 2013 Mar-Jun;34(1-2):109-11. Epub 2012 Dec 6.
    Department of Ophthalmology, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.
    Delleman syndrome (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, microphthalmia/anophthalmia, focal skin defects, skin appendages and multiple cerebral malformations. We herein describe a case of an 8-month-old male child with features suggestive of Delleman syndrome along with a rare congenital lid anomaly - an accessory palpebral aperture, not reported so far to the best of our knowledge. Read More

    A wedge-shaped anterior hairline extension associated with a tessier number 10 cleft.
    Ann Dermatol 2012 Nov 8;24(4):464-7. Epub 2012 Nov 8.
    Department of Dermatology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
    A wedge-shaped anterior hairline extension is a very rare skin manifestation usually associated with congenital anomalies including a Tessier number 10 cleft. Other associated conditions are the Tessier number 9 cleft, the Fraser syndrome, and the Manitoba oculotrichoanal syndrome (MOTA syndrome). The Tessier number 10 cleft features include a coloboma of the middle third of the upper eyelid, and an eyebrow divided into two portions. Read More

    Amniotic bands as a cause of congenital anterior staphyloma.
    Graefes Arch Clin Exp Ophthalmol 2013 Mar 13;251(3):959-65. Epub 2012 Nov 13.
    Department of Ophthalmology, University Hospital Tübingen, Schleichstr 12-16, 72076 Tübingen, Germany.
    Background: Congenital anterior staphyloma is a rare, complex malformation syndrome of the anterior segment. Only a few reports on associated systemic malformations have been published. We herein present a rare manifestation of congenital anterior staphyloma (CAS) combined with amniotic band disruption syndrome (ABS). Read More

    Bilateral microphthalmos with unilateral superior cyst in a child with autism and CHARGE syndrome.
    Int Ophthalmol 2013 Apr 31;33(2):195-8. Epub 2012 Oct 31.
    Oculoplasty, Orbit & Oncology Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
    A case of autism with CHARGE syndrome with microphthalmos and a superior colobomatous cyst arising from the optic disc is reported. A 7-year-old boy presented with a gradually increasing mass, involving the superior orbit and upper eyelid of right eye of 3 years' duration. Clinical examination revealed bilateral microphthalmos with typical iris coloboma, posterior synechiae, and cataractous lens. Read More

    Surgical treatment of upper eyelid coloboma: our experience.
    Ann Ital Chir 2012 Sep-Oct;83(5):379-83
    University of Perugia, Perugia, Italy.
    Aim: The purpose of this paper is to evaluate the results obtained in the surgical treatment of upper eyelid coloboma with methods that do not involve a prolonged occlusion of the eye.

    Material Of Study: We treated five patients aged between 7 months and 21 years; the surgical techniques adopted were the direct closure (2 patients), the full-thickness graft from the contralateral upper eyelid (2 patients) and the nasal chondromucosal flap (1 patient).

    Results: The results were good in all patients with vitality of all grafts and flaps; also absent were hematomas, seromas and infections. Read More

    Congenital upper eyelid coloboma with ipsilateral eyebrow hypoplasia.
    Vojnosanit Pregl 2012 Sep;69(9):809-11
    Centre for Plastic Surgery, Clinical Centre Kragujevac, Kragujevac, Serbia.
    Introduction: Coloboma is a Greek word, which describes the defect of all layers of the organ, and it can be congenital or as the result of an injury, operation, or some disease. Congenital upper eyelid coloboma is a rare anomaly, with the unknown incidence. The size of the defect is different, but it always involves all layers of the eyelid. Read More

    [Goldenhar's syndrome--case report].
    Klin Oczna 2012 ;114(1):38-40
    Oddział Okulistyczny Szpitala Wojewódzkiego w Łomzy.
    Goldenhar's syndrome is a very rare, multiple, developmental disease, with characteristic oculo-auriculo-vertebral triad of abnormalities. Ophthalmological changes are mainly: microphthalmia or anophthalmia and rarely, coloboma of upper eyelid or coloboma of optic nerve head. The aim of the article is to present the case of anophthalmia in the new-born child with phenotype of Goldenhar's syndrome. Read More

    Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?
    Am J Med Genet A 2012 May 9;158A(5):1185-9. Epub 2012 Apr 9.
    Unité de Génétique Médicale et laboratoire associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
    We report on two sibs, a girl, and a boy, with tall stature, long, and triangular faces, prominent foreheads with high frontal hairlines, telecanthus, downward slanting of the palpebral fissures, ptosis of the eyelids, everted lower eyelids, large ears, long noses, full, and everted vermilions, highly arched and narrow palates, tooth crowding, thin and long uvulae, coloboma of the alae, hyperextensible joints, long digits, positive thumb signs, flat feet, slightly diminished muscle strength, myopia, astigmatia, inguinal hernia, and vesical diverticula. Total body X-rays showed the presence of advanced bone age in both sibs and bilateral hallux valgus in the girl. Array-CGH did not reveal any pathological CNV. Read More

    Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case feport and literature review.
    Ophthalmic Genet 2012 Sep 9;33(3):161-6. Epub 2012 Apr 9.
    Michigan State University, Metro Health Hospital, WY 49519, USA.
    We report a patient with clinical anophthalmia, partial eyelid fusion and a hypoplastic socket on the right. The left eye has microphthalmia involving the anterior and posterior segments, microcornea, iris coloboma, chorioretinal dysgenesis, macular dysplasia, absence of retinal vessels, and optic nerve aplasia. Systemic abnormalities include microcephaly, bilateral hearing loss, and duodenal atresia. Read More

    Challenges in evaluation, management and outcome of the patients with Treacher Collins Syndrome.
    J Med Assoc Thai 2011 Dec;94 Suppl 6:S85-90
    Division of Plastic Surgery, Department of Surgery, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
    Background: The challenges for management of Treacher Collins Syndrome (TCS) are the analysis of deformities and staged soft tissue and bony reconstruction.

    Objective: To present clinical and radiologic findings, the evaluation methods and the concept of staged reconstruction for patients with TCS.

    Material And Method: The authors reviewed the clinical and radiologic findings, the evaluation methods, the staged reconstruction and early surgical outcome of three patients with TCS treated at Srinagarind Hospital, between 1994 and

    Results: One patient underwent evaluation by CT scan for planning, reconstruction of the zygoma and orbit, correction of the lower eyelid coloboma, bilateral staged ear reconstruction with costal cartilage. Read More

    Congenital isolated bilateral upper lid coloboma.
    Nepal J Ophthalmol 2012 Jan-Jun;4(1):194-6
    B.P. Koirala Lions Centre for Ophthalmic Studies, Maharajgunj, Kathmandu.
    A case of congenital isolated coloboma of both the upper lids from just lateral to the lacrimal punctum up to the medial half, with symblepharon in the region of lower eyelid, was studied in a 7-year-old female child. She did not have any other associated anomalies. The birth and family histories were normal. Read More

    Oculoauriculovertebral spectrum with a full range of severe clinical manifestations--case report.
    J Craniomaxillofac Surg 2014 Dec 11;42(8):2064-8. Epub 2011 Dec 11.
    Department of Paediatric and Oncological Surgery (Head of Department: Elzbieta Gawrych, MD, PhD), Pomeranian Medical University, Szczecin, Poland.
    Oculoauriculovertebral spectrum (OAVS) is a rare congenital malformation consisting of epibulbar dermoids, lid colobomas, auricular deformities, hypoplasia of the soft and bony tissues of the face, associated oral deformities and vertebral anomalies. This report presents a child with a choroid of the right eye, coloboma of the upper eyelid, epibulbar dermoid of the left eye, mandibular hypoplasia, facial asymmetry, bilateral complete cleft lip and palate, hypoplasia of the left alar cartilage, appendage of the left nose, butterfly vertebral defects of Th-1, Th-2 and abnormality of rib XI. Widened sulci of frontal and parietal lobes, bilateral white matter density decrease and calcifications of falx cerebelli were noted. Read More

    Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.
    BMC Med Genet 2011 Sep 27;12:125. Epub 2011 Sep 27.
    Fondazione Policlinico di Tor Vergata, Rome, Italy.
    Background: Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. Read More

    Nasopalpebral lipoma coloboma syndrome.
    Indian J Ophthalmol 2011 Sep-Oct;59(5):379-80
    Department of Ophthalmology, Minto Ophthalmic Hospital, Bangalore, India.
    Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome. Computed tomography scan showed a significantly hypodense lesion on the right side of nose which was confirmed to be a lipoma on histopathological examination. Read More

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