Studies of malformation syndromes in man. XXVII. The N syndrome, a "new" multiple congenital anomaly-mental retardation syndrome.

Abstract

Two brothers are reported with a previously undescribed multiple congenital anomaly/ mental retardation (MCA/MR) syndrome consisting of characteristic appearance, severe mental and growth retardation with visual impairment and deafness, dolichocephaly, hypotelorism, a “scalloped”, laterally overlapping upper eyelid, large corneas, abnormal auricles, dental dysplasia, generalized skeletal dysplasia (which includes overtubulation of the long bones with the distal long bones being relatively shorter than the proximal long bones), high fingerprint ridge count, cryptorchidism, hypospadias and spasticity. They have an apparently normal karyotype. The older of the two, now 13 years old, is receiving total institutional care. The younger died of lymphosarcoma at the age of 5 8/12 years, and at autopsy was found to have markedly abnormal cerebral cortical cyto‐architecture. These cases are reported as a “provisionally private syndrome”, but with the possibility in mind that further studies may prove the N syndrome to be either an autosomal recessive or an X‐linked recessive trait.