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English Journal

Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.

Morton JE1, Frentz S2, Morgan T2, Sutherland-Smith AJ3, Robertson SP4.
American journal of medical genetics. Part A.Am J Med Genet A.2016 Oct;170(10):2706-10. doi: 10.1002/ajmg.a.37804. Epub 2016 Jul 13.
Recently, a newly identified autosomal recessive skeletal dysplasia was described characterized by calvarial abnormalities (including cranium bifidum, coronal, and lambdoid synostosis), oligodactyly, femoral bowing, narrow thorax, small pelvic bones, and radiohumeral synostosis. In the two families
PMID 27410456

Paleodysmorphology and paleoteratology: Diagnosing and interpreting congenital conditions of the skeleton in anthropological contexts.

Oostra RJ1, Boer L2, van der Merwe AE3.
Clinical anatomy (New York, N.Y.).Clin Anat.2016 Oct;29(7):878-91. doi: 10.1002/ca.22769. Epub 2016 Sep 7.
Most congenital conditions have low prevalence, but collectively they occur in a few percent of all live births. Congenital conditions are rarely encountered in anthropological studies, not least because many of them have no obvious effect on the skeleton. Here, we discuss two groups of congenital c
PMID 27554863

Eley KA1, Thomas GP, Sheerin F, Cilliers D, Wall S, Johnson D.
The Journal of craniofacial surgery.J Craniofac Surg.2016 Sep;27(6):1543-9. doi: 10.1097/SCS.0000000000002888.
The squamosal suture is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones. While the phenotypic appearances and sequelae of synostosis of the major cranial vault sutures are well documented, little is reported concerning synostosis of the squamosal suture (S
PMID 27438438

Lambdoid Synostosis Associated with Chronic Tonsillar Herniation and Hydrocephalus