Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome?
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.
Evliyaoğlu
N
N
Department of Pediatrics, Faculty of Medicine, University of Cukurova, Adana, Turkey.
Temoçin
A K
AK
Altintaş
D U
DU
Duman
N
N
Satar
N
N
Süleymanova
D
D
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D001132:Arm / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004480:Ectromelia / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D014551:Urinary Tract / Q000002:abnormalities*; D014567:Urography