Antley-Bixler syndrome , ABS (skrót)

Antley-Bixler syndrome presents itself at birth or prenatally.

Antley-Bixler Syndrome often appears to be inherited as an autosomal recessive trait.

There are two distinct genetic mutations associated with the Antley-Bixler syndrome phenotype, which suggests the disorder may be genetically heterogeneous.

Examples include the craniosynostosis syndromes such as Crouzon syndrome, Pfeiffer syndrome, and Antley-Bixler syndrome.

Antley-Bixler syndrome, also called trapezoidocephaly-synostosis syndrome, is a rare, very severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.

Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, squamous cell lung cancer (14) and autosomal dominant Kallmann syndrome.

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.

STR analysis based DNA fingerprinting analysis combined with the other techniques have rejected the hypothesis of gynecomastia and craniosynostoses (e.g., Antley-Bixler syndrome) or Marfan syndrome, but an accumulation of malformations in Tutankhamun's family was evident.