Warburg Micro syndrome in a Turkish boy

Yueksel A., Yueksel A., Yesil G., Yesil G., Aras C., Aras C., ...Daha Fazla

Clinical Dysmorphology, cilt.16, sa.2, ss.89-93, 2007 (SCI-Expanded) identifier identifier identifier

  • 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
  • Anahtar Kelimeler: congenital cataracts, hypogenitalism, microcornea, microphthalmia, skin hyperextensibility and joint hypermobility, Warburg Micro syndrome, CONGENITAL CATARACT, MENTAL-RETARDATION, OPTIC ATROPHY, SHORT STATURE, 2ND FAMILY, SIBLINGS, HYPOGENITALISM, MICROPHTHALMIA, HYPOGONADISM, HYPOPLASIA
  • İstanbul Üniversitesi 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.