Clinical History.—A male infant weighing 1,470 gm (3 lb) was born spontaneously to a young primigravida following a gestation of 32 weeks. The placenta was grossly normal but the umbilical cord contained only two vessels. The Apgar score was 5 at one minute, but the child improved during the next few hours. However, his course was complicated by the occurrence of several cyanotic episodes which necessitated transfer to the premature infant nursery. There was no parental consanguinity and the family history was negative for dwarfism and metabolic disease.
Physical Examination.—Physical examination of this 23-day-old male infant who weighed 1,950 gm (4 lb) disclosed mild respiratory difficulty (chest circumference, 11 in). He was noticeably dwarfed (length, 15½ in) with disproportionate shortening of the arms and legs. There was saddlenose deformity of the face, clefting of the soft palate, and bilateral inguinal hernias. The skin and hair were normal. The