1,549 results match your criteria Clinical Dysmorphology [Journal]


Familial impairment of vocal cord mobility in childhood with clubfoot.

Clin Dysmorphol 2018 Jun 14. Epub 2018 Jun 14.

British Columbia Children's Hospital Research Institute.

We report on a family with three siblings, male and female, affected by congenital bilateral limitation of vocal cord abduction, with the additional finding of clubfeet in two. The paternal family history suggests an autosomal dominant inheritance. The siblings and father also have mild craniofacial features, which may be an expression of variability or may be unrelated. Read More

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June 2018
2 Reads

A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly.

Clin Dysmorphol 2018 Jul;27(3):109-111

Gaziantep Dr. Ersin Arslan Research and Education Hospital, Gaziantep.

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HHID syndrome with plantar fat pads caused by a de novo ARID1B mutation.

Clin Dysmorphol 2018 Jul;27(3):94-96

Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

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July 2018
1 Read

Robinow syndrome: a diagnosis at the fingertips.

Clin Dysmorphol 2018 Jun 1. Epub 2018 Jun 1.

Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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A large interstitial 11q deletion with isolated mild intellectual disability: review of the literature for genotype-phenotype correlation.

Clin Dysmorphol 2018 May 29. Epub 2018 May 29.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

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Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?

Authors:
Evren Gumus

Clin Dysmorphol 2018 May 24. Epub 2018 May 24.

Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa, Turkey.

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Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review.

Clin Dysmorphol 2018 Jul;27(3):84-87

Clinical Genetic Service, Department of Health, HKSAR, Hong Kong, Hong Kong.

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A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics.

Clin Dysmorphol 2018 Jul;27(3):71-77

Departments of Clinical Genetics.

In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set ears, hypertelorism, up-slanting palpebral fissures, almond-shaped eyes, and hypodontia, all leading to the clinical diagnosis of Char syndrome. Genetic analysis showed heterozygosity for the novel variant c.851T>C, p. Read More

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July 2018
2 Reads

A rare symptom of a very rare disease: a case report of a oculodentodigital dysplasia with lymphedema.

Authors:
Evren Gumus

Clin Dysmorphol 2018 Jul;27(3):91-93

Department of Medical Genetics, School of Medicine, Harran University, Sanliurfa, Turkey.

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July 2018
1 Read

Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients.

Clin Dysmorphol 2018 Jul;27(3):78-83

Department of Clinical Genetics, Amsterdam Medical Center, University of Amsterdam.

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July 2018
1 Read

A newborn diagnosed with van Maldergem syndrome.

Clin Dysmorphol 2018 Apr;27(2):63-65

Department of Neonatology, Etlik Zubeyde Hanim Women's Health Training and Research Hospital, Ankara, Turkey.

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April 2018
9 Reads

Complex cranio-vertebral malformation: disruption sequence or iniencephaly?

Clin Dysmorphol 2018 Jul;27(3):105-108

Department of Pediatrics, University of Lausanne and Lausanne University Hospital, Lausanne, Switzerland.

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July 2018
1 Read

Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element.

Clin Dysmorphol 2018 Apr;27(2):58-62

Department of Clinical Genetics, VU University Medical Center, Amsterdam.

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April 2018
2 Reads

Mutation in the ADNP gene associated with Noonan syndrome features.

Clin Dysmorphol 2018 Apr;27(2):53-57

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital.

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April 2018
3 Reads

Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.

Clin Dysmorphol 2018 Apr;27(2):31-35

Victorian Clinical Genetics Services, Murdoch Children's Research Institute.

Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by abnormal development of the first and second pharyngeal arches. MFDGA is characterized by malar and mandibular hypoplasia, microcephaly, developmental delay, dysplastic ears, and a distinctive facial appearance. Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities. Read More

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April 2018
22 Reads
0.42 Impact Factor

SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss.

Clin Dysmorphol 2018 Apr;27(2):27-30

Genetic Counselling and Diagnostics, Genetikum Stuttgart, Stuttgart.

Heterozygous microdeletions of chromosome 2p21 encompassing only the SIX2 gene have been described in two families to date. The clinical phenotype comprised autosomal-dominant inherited frontonasal dysplasia with ptosis in one family. In the second family, conductive hearing loss was the major clinical feature described; however, the affected persons also had ptosis. Read More

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April 2018
3 Reads

Clinical and molecular characterization of the first familial report of 1p32 microdeletion.

Clin Dysmorphol 2018 Apr;27(2):36-41

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

Structural rearrangements of chromosome band 1p31p32 are rare, and their phenotypic consequences remain poorly delineated. Up to 12 patients with learning difficulties, developmental delay, multiple congenital anomalies and microdeletion of the chromosome band 1p31p32 have been described. Inheritance of this deletion has not been reported previously. Read More

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April 2018
5 Reads

A patient with chromosome 18p deletion and congenital hypoglossia.

Clin Dysmorphol 2018 Apr;27(2):46-48

Department of Oral and Maxillofacial Surgery, University Medical Center.

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April 2018
4 Reads

A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia.

Clin Dysmorphol 2018 Jan;27(1):9-11

aGenomic Medicine ProgrambDr John T. Macdonald Foundation Department of Human GeneticscDivision of Pediatric Hematology and Oncology, Department of PediatricsdJohn P. Hussman Institute for Human GenomicseDepartment of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida, USA.

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January 2018
4 Reads

Sensorineural hearing loss in a patient with Swyer syndrome.

Clin Dysmorphol 2018 Jan;27(1):4-5

Department of Otolaryngology-Head and Neck Surgery, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, ROC.

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January 2018
3 Reads

Parieto-occipital alopecia in early infancy mandates cranial imaging.

Clin Dysmorphol 2018 Jan;27(1):15-17

Pediatric Genetics Unit, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University.

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January 2018
4 Reads

Left ventricular dysfunction in a patient with Angelman syndrome.

Clin Dysmorphol 2018 Jan;27(1):21-22

Department of Pediatric Cardiology, The Heart Institute.

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January 2018
4 Reads

Sinus pericranii in achondroplasia: a case report and review of the literature.

Clin Dysmorphol 2017 Oct;26(4):252-255

aDepartment of Medical and Molecular Genetics bDivision of Pediatric Neurosurgery, Goodman Campbell Brain and Spine, Indiana University School of Medicine, Indianapolis, Indiana, USA.

In the field of dysmorphology, achondroplasia is a well-known disorder. Sinus pericranii (SP), however, is not. The latter condition is a rare vascular malformation characterized by abnormal connections between the intracranial and the extracranial venous drainage pathways. Read More

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October 2017
5 Reads

A novel COL1A1 mutation causing a variant of osteogenesis imperfecta.

Clin Dysmorphol 2017 Oct;26(4):243-246

aDevelopmental Endocrinology Research Group, Child Health, School of Medicine, University of Glasgow, Royal Hospital for Children bWest of Scotland Genetics Service, Laboratory Medicine Building, Queen Elizabeth Hospitals, Glasgow cSheffield Diagnostics Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, UK.

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October 2017
5 Reads

Jejunal atresia, periodic fevers and psoriatic arthropathy in Baraitser-Winter malformation syndrome.

Clin Dysmorphol 2017 Oct;26(4):235-237

aDepartment of Medical Genetics, McGill University, Montreal, Quebec, Canada bWellcome Trust Sanger Institute cDepartment of Medical Genetics, University of Cambridge, Cambridge, UK.

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October 2017
3 Reads

Arytenoid neuromas are a recognized feature of SOS1 mutations causing pure mucosal neuroma syndrome.

Clin Dysmorphol 2018 Jan;27(1):23-24

Department of Genetic Medicine, Belfast Health and Social Care Trust, UK.

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January 2018
3 Reads

Marfanoid habitus is a nonspecific feature of Perrault syndrome.

Clin Dysmorphol 2017 Oct;26(4):200-204

aCenter for Human Genomics, Faculty of Medicine and Pharmacy bDepartment of Endocrinology, Diabetology and Nutrition, Avicenna Hospital, Mohammed V University cDepartment of Medical Genetics, National Institute of Health, Rabat, Morocco dDivision of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester eManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

The objective of this study was to report the clinical and biological characteristics of two Perrault syndrome cases in a Moroccan family with homozygous variant c.1565C>A in the LARS2 gene and to establish genotype-phenotype correlation of patients with the same mutation by review of the literature. Whole-exome sequencing was performed. Read More

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October 2017
13 Reads

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

Clin Dysmorphol 2017 Oct;26(4):231-234

aDepartment of Medical Genetics, CHU Bordeaux bCaribbean Reference Center for rare neuromuscular and neurologic diseases (CeRCa), CHU Martinique, route de Chateauboeuf, BP 632 97200 Fort-de-France Cédex cMultidisciplinary Center for Prenatal Diagnosis (CPDP) - Mother and Children's Hospital - CHU Martinique, route de Chateauboeuf, BP 632 97200 Fort-de-France Cédex dINSERM U1211, University of Bordeaux, 33076 Bordeaux, France.

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October 2017
9 Reads

RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature.

Clin Dysmorphol 2017 Oct;26(4):195-199

aDepartment of Pediatrics, Division of Neonatology bDepartment of Pediatrics, Division of Cardiology cDepartment of Pediatrics, Division of Genetics, Louisiana State University Health Sciences Center and Children's Hospital of New Orleans, New Orleans, Louisiana, USA.

Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous as pathogenic variants in several genes involved in the Ras/mitogen-activated protein kinase pathway have been associated with a NS phenotype. Overall, 50% of patients harbor pathogenic variants in PTPN11, whereas 3-17% of patients have variants in RAF1. Read More

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October 2017
4 Reads

3q29 Chromosomal duplication in a neonate with associated myelomeningocele and midline cranial defects.

Clin Dysmorphol 2017 Oct;26(4):221-223

Departments of aPediatrics bPathology and Laboratory Medicine cNeurosurgery dDivision of Neonatal-Perinatal Medicine, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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October 2017
4 Reads

Hyperechoic renal medullary pyramids in a boy with Simpson-Golabi-Behmel syndrome.

Clin Dysmorphol 2018 Jan;27(1):25-26

Department of Pediatrics, University of Yamanashi, Yamanashi.

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January 2018
2 Reads

Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring.

Clin Dysmorphol 2017 Oct;26(4):209-216

aDivision of Genetics, CIBO-IMSS, and Doctorate in Human Genetics, CUCS-UdeG bDivision of Immunology, CIBO-IMSS, Guadalajara cDepartment of Genetics, Institute of Biological Sciences, Universidad Autonomous of Guadalajara dDepartment of Medical Sciences, University Center of the Coast (CUCOSTA), University of Guadalajara, Puerto Vallarta, Jal. eDepartment of Biological Chemistry, Institute of Biomedical Sciences, University Autonomous of Juarez City, Juarez City, Chihuahua, Mexico fDepartment of Basic Psychology, University Center of Health Sciences (CUCS), University of Guadalajara, Guadalajara, Jal. Mexico.

In this study, we describe two patients with a recombinant chromosome secondary to a maternal intrachromosomal insertion. Patient 1 was a girl with dup(6)(p22.3p25. Read More

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October 2017
8 Reads

Familial unilateral carpal bone dysplasia in mother and daughter.

Clin Dysmorphol 2017 Jul;26(3):167-169

Departments of aPediatrics and Child HealthbOrthopedic SurgerycCenter for Institutional Research and Medical Education, Nihon University School of MedicinedDepartment of Radiology, National Center for Child Health and DevelopmenteDepartment of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

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July 2017
4 Reads

Occurrence of nasal dermoid cysts in a family with a single maxillary median central incisor: extending the clinical spectrum.

Clin Dysmorphol 2017 Oct;26(4):238-242

aWest of Scotland Regional Genetics Service, Laboratory Medicine Building bDepartment of Neurosurgery, Queen Elizabeth University Hospital cDepartment of Paediatric Radiology, Royal Hospital for Children, Glasgow, UK.

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October 2017
3 Reads

Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1.

Clin Dysmorphol 2017 Oct;26(4):228-230

aYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds bClinical Genetics Service, City Hospital Campus cDepartment of Cytogenetics, Nottingham University Hospitals NHS Trust, Nottingham dDepartment of Paediatric Psychology eHighly Specialised Severe, Complex and Atypical OI Service fSheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust gAcademic Unit of Child Health, University of Sheffield, Sheffield, UK.

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October 2017
4 Reads

Pierpont syndrome: report of a new patient.

Clin Dysmorphol 2017 Oct;26(4):205-208

aInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden bDepartment of Congenital Heart Disease and Pediatric Cardiology, Universitätsklinikum Schleswig-Holstein Kiel, Kiel cMitteldeutscher Praxisverbund Humangenetik, Praxis Erfurt, Erfurt, Germany.

Pierpont syndrome (OMIM #602342) is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. A specific mutation in TBL1XR1 [c.1337A>G; p. Read More

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October 2017
5 Reads

Myhre syndrome with novel findings: bilateral congenital cortical cataract, bilateral papilledema, accessory nipple, and adenoid hypertrophy.

Clin Dysmorphol 2018 Jan;27(1):12-14

Department of Medical Genetics, Ataturk University Medical Faculty, Erzurum, Turkey.

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January 2018
6 Reads

Clinical course over five decades of a woman carrying 16p13.3 microduplication.

Clin Dysmorphol 2017 Oct;26(4):217-220

Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

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October 2017
3 Reads

Two patients with 19p13.2 deletion (Malan syndrome) involving NFIX and CACNA1A with overgrowth, developmental delay, and epilepsy.

Clin Dysmorphol 2017 Oct;26(4):224-227

aDepartment of Pediatrics, Graduate School of Medicine, University of Tokyo bDepartment of Pediatrics, Teikyo University School of Medicine, Tokyo cDepartment of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto dDivision of Medial Genetics, Kanagawa Children's Medical Center, Kanagawa, Japan.

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October 2017
5 Reads

Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.

Clin Dysmorphol 2017 Jul;26(3):135-141

aPediatric Research Institute bDepartment of Respiratory Interventional Radiology, Qilu Children's Hospital of Shandong University, Jinan, Shandong, China.

Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain MRI. So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrome 10 (JBTS10). Six mutations in the OFD1 gene have been found to cause JBTS10. Read More

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July 2017
6 Reads