The patient was a white boy knowni to have an atypical variety of congenital chondrodystrophy. lie was first admiiitted to The Children's Hospital of Philadelphia at the age of 5 vears for cardiac evaluation shortly after the discovery of a cardiac niiurniur and cardiomeg'alv associated with dimniiinished exercise tolerance. He died 4 mwonths later in acute congestive heart failure, a few hours after the onset of an intercurrent respiratory tract infection.Both parents and a 3-year-old brother were niormnal and healthy. There had been no previous miscarriages. No history of consangnuinity could be elicited; both maternal clnd paternal grandparcaits wer e Jewish and had immliiigrated from-l the saine localitv in eastern Europe.The patienit was borii following an 8-imioath plegnanmcy which was term:linated premuaturely beause. of placenta praevia. Following the onset of v-agrinal bleeding, during the second month of pregnancy, the muother received dailv oral "hornione" miiedication. The birth weight was 2,210 Gin.; there were no immllwediate neonatal difficulties. Physical examiination ini the nursery revealed small, square hands and feet, short upper extrei=ni-ties, and a position of extension of all extremnities.No cardiac abnormiialities were noted at this timne.Roentgenogramns of the long bones were reported to be noramal. Ineubator care was inainitained for 3 weeks following' which the patienit was diseharged weighing 2',515 Gm.The patie-nt fed poorly and gained weight slowly
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