Tubular skin appendage, renal agenesis and popliteal web: a further example of the human homologue of disorganization (Ds).
We describe a newborn infant with defects similar to those seen in mice heterozygous for the mutant disorganization (Ds) gene. The child had left popliteal webbing, left iliac bone hypoplasia, bifid scrotum, hypospadias, chordee deformity of the penis and a sacral dimple. Other anomalies included absence of the right kidney and a bizarre hamartomatous tubular skin pedicle on the left thigh. No obvious amniotic bands or oligohydramnios were noted. The similarity between the proband's anomalies, those in previously reported cases, and those found in mice support the possibility of a human homologue of the Ds gene.
Esra Önal
E
E
Gazi University Medical School, Division of Neonatology, Turkey.
Türkyilmaz
Canan
C
Atalay
Yıldız
Y
Okumuş
Nurullah
N
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000818:Animals; D001842:Bone and Bones / Q000002:abnormalities; D006615:Hip / Q000002:abnormalities; D006801:Humans; D007021:Hypospadias / Q000473:pathology; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D038061:Lower Extremity Deformities, Congenital / Q000473:pathology*; D008297:Male; D051379:Mice; D009154:Mutation / Q000235:genetics; D010413:Penis / Q000002:abnormalities; D012868:Skin Abnormalities / Q000473:pathology*; D013577:Syndrome; D014421:Turkey