A family with the Saethre‐Chotzen syndrome

Abstract

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.

Congenital craniofacial anomalies

“…Hearing impairment has also been observed. Dental anomalies occur in approximately 50% of patients, including malocclusion, high-arched palate, and cleft palate [62][63][64][65]. Although most patients with Saethre-Chotzen syndrome have normal intelligence, seizures and schizophrenia have been reported [23,56,57].…”

Saethre‐Chotzen syndrome with familial translocation at chromosome 7p22

“…Autosomal dominant inheritance with variable expressivity is well documented. The syndrome was fully delineated by Pantke et al [19751 and reviewed ex-haustively by Cohen [19861. Several reports have been published since then [Bianchi et al, 1985;NiemannSeyde et al, 1991;Cristofori and Filippi, 19921. Recently, evidence for linkage of Saethre-Chotzen syndrome to distal chromosome 7p has been demonstrated [Brueton et al, 19921. An affected father and daughter with an apparently balanced translocation, t(7;10)(p21.2; q21.2), have also been reported [Reardon et al, 19931.…”

Jackson‐Weiss syndrome: Clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter

“…Defined entities within the group are Apert syndrome (ACS I) [Blank, 19601, Saethre-Chotzen syndrome (ACS 111) [Pantke et al, 1975;Kreiborg et al, 1972;Bianchi et al, 19851, Pfeiffer syndrome (ACS Vj [Pfeiffer, 1969, 19641, Robinow-Sorauf type ACS [Robinow and Sorauf, 19751, and JWS [Jackson et al, 19761. Several authors have discussed their classification and distinguishing manifestations [Bianchi, 1985;Saethre, 1931;Chotzen, 1932;Vogt, 1933;Waardenburg, 1934;Noack, 19591. Apert syndrome has a distinct and consistent phenotype but there is overlap between the other acrocephalosyndactylies, with considerable phenotypic variability between and within families.…”