CEREBELLAR HYPOPLASIA, FACIAL DYSMORPHISM AND INTERNAL ABNORMALITIES - A NEW RECESSIVE SYNDROME

Three female sibs had cerebellar hypoplasia, facial dysmorphism compri sing a high forehead, lowset posteriorly rotated ears, a prominent upp er lip and receding chin, and variable internal abnormalities. Two of the cases had deficient lobulation of the lungs, two had an atrial sep tal defect of the heart and developmental abnormalities of the urinary system or internal genitalia, one had holoprosencephaly. All had norm al chromosomes. This syndrome does not seem to have been reported befo re and may be inherited in an autosomal recessive manner.