Distal aphalangia, an extra metatarsal, short stature and microcephalycolon; a second case

摘要

A 17-year-old male with distal aphalangia, an extra metatarsal, short stature and microcephaly is described. This is the second case with these features to be reported. In addition this case has scolios and megaureter. There was consanguinity of the parents suggesting the possibility of autosomal recessive inheritance.