title: Vici syndrome in siblings born to consanguineous parents.
abstract: Vici syndrome (OMIM 242840) is a rare syndrome and since its initial description by Vici et al. [1988], only 29 cases have been reported. We describe two brothers from healthy consanguineous Turkish parents with psychomotor delay, congenital bilateral cataracts, high palate, long philtrum, micrognathia, fair hair, and skin. They both had general hypotonia and elevated muscle enzymes. Magnetic resonance imaging (MRI) of the brain confirmed agenesis of corpus callosum in both patients. Secundum type atrial septal defect (in Patient 1) and mild mitral, tricuspid, and pulmonary insufficiency (in Patient 2) were detected by echocardiographic examination. Immunological studies were normal, as were chromosome karyotype analyses (46, XY). Both children had bilateral cutaneous syndactyly between second and third toes and also bilateral sensorineural hearing loss. Patient 1 had poor feeding and regurgitation necessitating a feeding tube; mild laryngomalacia was subsequently detected by bronchoscopy. Mutation analysis in patient 2 showed a homozygous p.R2483* (c.7447C > T) mutation in EPG5 gene. We report a summary of the clinical findings in our patients and 29 cases from the literature.
authors.affiliation: Department of Medical Genetics, Ataturk University, Erzurum, Turkey.
authors.forename: Sener
authors.initials: S
authors.lastname: Tasdemir
authors.affiliation: Department of Medical Genetics, Ataturk University, Erzurum, Turkey.
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Sahin
authors.affiliation: Department of Pediatrics, Departments of Pediatric Endocrinology, Regional Training and Research Hospital, Erzurum, Turkey.
authors.forename: Atilla
authors.initials: A
authors.lastname: Cayır
authors.affiliation: Department of Radiology, Ataturk University, Erzurum, Turkey.
authors.forename: Ihsan
authors.initials: I
authors.lastname: Yuce
authors.affiliation: Intergen Genetics Centre, Ankara, Turkey.
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
authors.affiliation: Department of Medical Genetics, Ataturk University, Erzurum, Turkey.
authors.forename: Abdulgani
authors.initials: A
authors.lastname: Tatar
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002386:Cataract / Q000235:genetics*; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005190:Family; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics*; D010290:Parents; D035781:Siblings
keywords: EPG5; Vici syndrome; consanguinity