[MIM 207 410 ; 201 750]

Very rare. 

Two types: 

(1) type 1 with heterozygous mutations of the FGFR2 gene (10q 26), without impairment of steroidogenesis. Autosomal dominant transmission.

(2) type 2 with homozygous anomalies of the POR gene (7q11.2) coding for cytochrome P450 oxidoreductase, an enzyme playing a direct role in steroidogenesis. Autosomal recessive transmission.

Malformative syndrome combining:

-         multiple cartilaginous and bony dysgenesis: radio-humeral synostosis, arachnodactyly, contractures, neonatal fractures

-         craniosynostosis with midface hypoplasia, brachycephaly;  short and upturned nose, small mouth and ears

-         choanal atresia or stenosis.

Sometimes:  cardiac or urogenital abnormalities ('horseshoe' kidney , ureteral anomalies) with sexual ambiguity (type 2): cryptorchidism in the boy; amenorrhea and polycystic ovary syndrome, or virilization and clitoromegaly in girls.

Anesthetic implications: 

Risk of difficult intubation and difficult venous access. Obstructive apnea.

References : 

 -        LeBard SE, Thiemann LJ. 
Antley-Bixler syndrome : a case report and discussion.
Paediatr Anaesth 1998: 8:89-91.

Updated: November 2019