Antley–Bixler syndrome, also called trapezoidocephaly-synostosis syndrome, is a rare, very severe autosomalrecessivecongenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.
Antley–Bixler syndrome is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the gene (one inherited from each parent) are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene but are usually not affected by the disorder.
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^ abAdachi M, Tachibana K, Asakura Y, Yamamoto T, Hanaki K, Oka A (2004). "Compound heterozygous mutations of cytochrome p450 oxidoreductase gene (POR) in two patients with Antley–Bixler syndrome". American Journal of Human Genetics128 (4): 333–339. doi:10.1002/ajmg.a.30169. PMID15264278.