Warburg Micro syndrome in a Turkish boy
CLINICAL DYSMORPHOLOGY, cilt.16, sa.2, ss.89-93, 2007 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 16 Sayı: 2
- Basım Tarihi: 2007
- Doi Numarası: 10.1097/mcd.0b013e328054c404
- Dergi Adı: CLINICAL DYSMORPHOLOGY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.89-93
- İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet
Özet
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 + 1 G > 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.