Lethal neonatal Hutchinson-Gilford progeria syndrome

We report on a 35-week gestation female fetus with Hutchinson-Gilford proge ria (HGP), This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases , supports the existence of a more severe prenatal form of progeria, She di ed 7 hours after birth and presented with intrauterine growth retardation, premature aging, absence of subcutaneous fat, brachydactyly, absent nipples , hypoplastic external genitalia, and abnormal ear lobes, The child's combi nation of clinical and skeletal manifestations differentiates this form of HGP from other progeroid syndromes with neonatal presentation. We also repo rt previously undescribed autopsy findings including premature loss of hair follicles, premature regression of the renal nephrogenic layer, and premat ure closure of the growth plates in the distal phalanges that may be relate d to the aging processes in this condition. We could not find any histologi cal data to support acro-osteolysis, which is the radiographic sign of brac hydactyly. The terminal phalanges in HGP seem to be underdeveloped rather t han osteolytic. (C) 1999 Wiley-Liss, Inc.