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Saethre-Chotzen Syndrome

Known as: ACS3, SCS, Acrocephalosyndactyly III 
A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in… 
National Institutes of Health

Related topics

Related topics

21 relations

Broader (2)

AcrocephalosyndactyliaSyndrome
AcrocephalyAutosomal dominant inheritanceBlepharoptosisBrachycephaly

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2004
2004
Saethre-Chotzen syndrome
Most people with Saethre-Chotzen syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes… 
Review
2002
Review
2002
A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation.
OBJECTIVE Patients with syndromic craniosynostosis may have associated hearing deficits. A review of hearing loss associated with… 
Review
2000
Review
2000
Saethre-Chotzen syndrome: review of the literature and report of a case.
Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly syndrome whose gene has been assigned to chromosome 7p (TWIST). A… 
Review
1997
Review
1997
The cervical spine in Saethre-Chotzen syndrome.
Twenty patients with a diagnosis of Saethre-Chotzen syndrome had their cervical spine radiographs reviewed. Radiologic… 
1996
1996
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.
We describe the clinical manifestations of an autosomal dominant form of craniosynostosis in a large family with eight affected… 
1993
1993
Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.
Evidence for the location of the Saethre-Chotzen acrocephalosyndactyly mutation on 7p21-22 is based on genetic linkage studies in… 
1992
1992
Saethre-Chotzen syndrome with trigonocephaly.
We report on a 20-month-old boy with skull malformations and motor delays. A diagnosis of Saethre-Chotzen syndrome was made in… 
1985
1985
A family with the Saethre-Chotzen syndrome.
Acrocephalosyndactyly (ACS) is an inherited syndrome of premature synostosis of the cranial sutures and abnormalities in the… 
Review
1985
Review
1985
Parietal foramina in the Saethre-Chotzen syndrome.
SIR, Several surveys have been undertaken in the United Kingdom to assess the response of the indigenous population to genetic… 
1984
1984
Parietal foramina in Saethre-Chotzen syndrome
A father and son with Saethre-Chotzen syndrome and parietal foramina are described, to draw attention to this little known… 
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