Adams-Oliver syndrome: Further evidence for autosomal recessive inheritance

ÜNAY, Bülent; Sarici, Sümit; Gül, Davut; Akin, Ridvan; Gökçay, Erdal

doi:10.1097/00019605-200107000-00014

Adams-Oliver syndrome: Further evidence for autosomal recessive inheritance

ÜNAY B., Sarici S., Gül D., Akin R., Gökçay E.

Clinical Dysmorphology, cilt.10, sa.3, ss.223-225, 2001 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 10 Sayı: 3
Basım Tarihi: 2001
Doi Numarası: 10.1097/00019605-200107000-00014
Dergi Adı: Clinical Dysmorphology
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.223-225
Anahtar Kelimeler: Adams-Oliver syndrome, Autosomal recessive, Epilepsy, Intracranial calcification
Sağlık Bilimleri Üniversitesi Adresli: Hayır

Özet

We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely rare central nervous system anomalies including microcephaly, epilepsy, mental retardation and intracranial calcifications in addition to the classical scalp and limb defects. © 2001 Lippincott Williams & Wilkins.