A SYNDROME OF HYPOTONIA, PSYCHOMOTOR RETARDATION, SEIZURES, DELAYED AND DYSHARMONIC SKELETAL MATURATION, AND CONGENITAL FIBER-TYPE DISPROPORTION

Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, h ad marked, central, non-progressive hypotonia, chronic constipation, s evere psychomotor retardation, seizures or abnormal electroencephalogr aph or both, abnormal dermatoglyphics, delayed bone age, dysharmonic s keletal maturation, and preponderance and larger size of type 2 muscle fibres. Additional findings included narrow, high arched palate, prom inent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hyp ertelorism, and tapered fingers. Birth weight, postnatal physical grow th, and head size were average. Family and gestational histories and l aboratory evaluations were normal. The combination of features observe d in the three boys appears to be distinct and to represent a new synd rome.