Tubular skin appendage, renal agenesis and popliteal web: a further example of the human homologue of disorganization (Ds).

Abstract excerpt

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...

Topics

• Abnormalities, Multiple
• Animals
• Bone and Bones
• Hip
• Humans
• Hypospadias
• Infant, Newborn
• Kidney
• Lower Extremity Deformities, Congenital
• Male
• Mice