Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome?

EVLIYAOGLU, NURDAN; TEMOCIN, AK; ALTINTAS, DERYA; DUMAN, N; Satar, NİHAT; SULEYMANOVA, D

Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome?

EVLIYAOGLU N., TEMOCIN A., ALTINTAS D. U., DUMAN N., Satar N., SULEYMANOVA D.

CLINICAL GENETICS, cilt.49, sa.2, ss.70-73, 1996 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 49 Sayı: 2
Basım Tarihi: 1996
Dergi Adı: CLINICAL GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.70-73
Çukurova Üniversitesi Adresli: Evet

Özet

This report describes a girl with phocomelia of the right upper limb, ectrodactyly, sacral hypoplasia and a large skull defect, but with normal growth and mental development. Ultrasonography and intravenous pyelography showed bilateral hydronephrosis and dilated ureters. We conclude that this patient may represent Schinzel-phocomelia syndrome with additional urinary tract anomalies.