A family with the Saethre-Chotzen syndrome

✍ Scribed by Bianchi, Elena ;Aric??, Maurizio ;Podest??, Alberto F. ;Grana, Marco ;Fiori, Paola ;Beluffi, Giampiero ;Opitz, John M. ;Reynolds, James F.

• Book ID: 102699489
• Publisher: John Wiley and Sons
• Year: 1985
• Tongue: English
• Weight: 710 KB
• Volume: 22
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320220402

✦ Synopsis

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 I11 (or Saethre-Chotzen syndrome) is characterized by microcephaly, skull asymmetry, mild syndactyly, and facial abnormalities. We describe an Italian family with ACS I11 in which two sibs are clearly affected; the mother and the maternal grandmother show some features of the syndrome.