The popliteal pterygium syndrome: an analysis of two families.
The popliteal pterygium syndrome is characterized by multiple anomalies of the face, genito-urinary system and extremities with autosomal dominant inheritance with variable expression. Also sporadic cases probably based upon spontaneous mutation can be recognized. The plastic, orthopaedic, and maxillofacial surgeon should be aware of the variable nature of the syndrome and should consult a medical geneticist. A coordinated team approach appears to be most adequate for diagnosis, counselling and treatment.
Spauwen
P H
PH
Department of Plastic and Reconstructive Surgery, University Hospital Nijmegen, The Netherlands.
Cobben
J M
JM
Gardeniers
J W
JW
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003286:Contracture / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005500:Follow-Up Studies; D005530:Foot Deformities / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007569:Jaw Abnormalities / Q000235:genetics; D007717:Knee / Q000002:abnormalities*; D008297:Male; D010348:Patient Care Team; D012868:Skin Abnormalities; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome; D014564:Urogenital Abnormalities