A family with the Saethre-Chotzen syndrome.
Acrocephalosyndactyly (ACS) is an inherited syndrome of premature synostosis of the cranial sutures and abnormalities in the distal segments of the limbs. Several forms of ACS have been described. ACS type III (or Saethre-Chotzen syndrome) is characterized by microcephaly, skull asymmetry, mild syndactyly, and facial abnormalities. We describe an Italian family with ACS III in which two sibs are clearly affected; the mother and the maternal grandmother show some features of the syndrome.
D000168:Acrocephalosyndactylia / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging