German syndrome in sibs.
We present a male-female sib pair born to Ashkenazi Jewish parents with "arthrogryposis," hypotonia-hypokinesia sequence and lymphedema. Of all the "arthrogryposis" hypotonia syndromes, the condition in these sibs appears to be most like that of the patients of German et al [1975] and the patient of Salmon [1978]. They appear to be the first sib pair with German syndrome, which suggests autosomal recessive inheritance. Three of the four known families with affected children have been Ashkenazi Jews.
D000015:Abnormalities, Multiple / Q000208:ethnology / Q000235:genetics*; D001176:Arthrogryposis / Q000208:ethnology / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007585:Jews; D008297:Male; D009123:Muscle Hypotonia / Q000208:ethnology / Q000235:genetics*; D013577:Syndrome