Saethre-Chotzen syndrome: a case report.

The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.

The TWIST gene maps to 7p21 and mutations in the gene have been reported in the Saethre-Chotzen form of craniosynostosis. The position of the Saethre-Chotzen gene has previously been refined by FISH analysis of four patients carrying balanced translocations involving 7p21 which suggested that it was located between D7S488 and D7S503. We report here that the breakpoints in four translocation pat...

Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.

We describe three families segregating different reciprocal chromosome translocations, t(7;18)(p21.2;q23), t(2;7)(q21.1;p21.2), and t(5;7)(p15.3;p21.2). A total of seven apparently balanced carriers have been identified and all manifest features of the Saethre-Chotzen syndrome, although only two have overt craniosynostosis. In one family the carriers are immediately recognisable by their unusua...

Saethre-Chotzen syndrome

Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome.

Twist is a transcription factor that is required for mesodermal cell fates in all animals studied to date. Mutations of this locus in humans have been identified as the cause of the craniofacial disorder Saethre-Chotzen syndrome. The Caenorhabditis elegans Twist homolog is required for the development of a subset of the mesoderm. A semidominant allele of the gene that codes for CeTwist, hlh-8, ...

Parietal foramina in Saethre-Chotzen syndrome.

Saethre-Chotzen syndrome is characterised by craniosynostosis, facial asymmetry, low set frontal hairline, ptosis of the eyelids, deviated nasal septum, prominent crus of the ears, and a variable degree of brachydactyly and partial cutaneous syndactyly of the second and third fingers.12 Inheritance is autosomal dominant, mostly reported with a high degree of penetrance, although in a series rep...