2. Biology Dictionary
  3. Antley-Bixler syndrome

Antley-Bixler syndrome

Definition:

Antley-Bixler syndrome (ABS) is a rare craniosynostosis syndrome characterized by radiohumeral synostosis. There is a wide spectrum of anomalies seen in ABS. Other features include midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Two genetically distinctive forms have been observed. Type 1 ABS involves mutations in the FGFR2 gene without impairment of steroidogenesis. Type 1 ABS patients are with the most severe skeletal abnormalities but normal genitalia. Type 2 ABS involves mutations in the gene encoding cytochrome P450 oxidoreductase (POR), an enzyme which plays a direct role in steroidogenesis. Type 2 ABS is an autosomal recessive disorder, and it is associated with abnormal genitalia in both sexes due to impaired steroidogenesis. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age.

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #
Molarity Calculator
Dilution Calculator
Signaling Pathways