title: Warburg Micro syndrome in a Turkish boy.
abstract: We report a 4-year-old Turkish boy with Warburg Micro syndrome born to consanguineous parents. He had ptosis, deep-set eyes, microphthalmia, microcornea, microcephaly, prominent ears and nasal root, micrognathia, hypertrichosis, spastic diplegia, skin hyperextensibility and joint hypermobility, hypogenitalism, cerebral atrophy and hypoplasia of corpus callosum and cerebellum. Sequence analysis of exon 8 of the RAB3GAP gene has confirmed the presence of a splice donor mutation (748+1G>A) in the homozygous state. Skin hyperextensibility and joint hypermobility in the affected child have not been reported in Warburg Micro syndrome cases to date. This report compares the symptoms and features of the case with previously reported cases of Warburg Micro syndrome.
authors.affiliation: Departments of Medical Genetics Ophthalmology Medical Biology, Istanbul University Cerrahpasa Medical Faculty, Istanbul, Turkey.
authors.forename: Adnan
authors.initials: A
authors.lastname: Yüksel
authors.forename: Gözde
authors.initials: G
authors.lastname: Yesil
authors.forename: Cengiz
authors.initials: C
authors.lastname: Aras
authors.forename: Mehmet
authors.initials: M
authors.lastname: Seven
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D044466:Asian People; D002675:Child, Preschool; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013577:Syndrome; D014421:Turkey