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, ss.70-73, 1996 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 49 Konu: 2
  • Basım Tarihi: 1996
  • Dergi Adı: CLINICAL GENETICS
  • Sayfa Sayıları: ss.70-73

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.