Disorganisation: a case with popliteal pterygia and placental-skin appendages.
We report a girl with congenital anomalies which include amniotic rings and scars, cleft lip and palate, thumb abnormalities, hexadactyly of feet, severe flexion deformities of legs and unusual finger-like appendages which were attached to the placenta. We suggest this patient represents another example of human homologue for the mouse mutant disorganisation (Ds).
Korniszewski
L
L
Department of Pediatric Diabetology and Birth Defects, University Medical School, Warsaw, Poland.
Skorka
A
A
Donnai
D
D
D000015:Abnormalities, Multiple; D000818:Animals; D001132:Arm / Q000002:abnormalities; D002971:Cleft Lip; D002972:Cleft Palate; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities; D051379:Mice; D011625:Pterygium; D012868:Skin Abnormalities