Lewin and Hughes (1987) presented the cases of a male-female sib pair with 'arthrogryposis,' hypotonia-hypokinesia sequence, and lymphedema. The parents were Ashkenazi Jewish. The authors suggested that the condition in these sibs was the same as that described by German et al. (1975). The boy died at age 2 years of cor pulmonale; the girl was stillborn. This was the first instance of affected sibs. Three of the 4 known families with affected children have been Ashkenazi Jews.
1. German, J.; Morillo-Cucci, A.; Simpson, J. L.; Chaganti, R. S. K. :
Generalized dysmorphia of a similar type in 2 unrelated babies. Birth Defects Orig. Art. Ser. XI(2): 34-38, 1975.
2. Lewin, S. O.; Hughes, H. E. :
German syndrome in sibs. Am. J. Med. Genet. 26: 385-390, 1987.PubMed ID : 3812590
Victor A. McKusick : 2/9/1987
mimadm : 2/19/1994carol : 7/15/1992supermim : 3/16/1992supermim : 3/20/1990ddp : 10/26/1989marie : 3/25/1988
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