Antley Bixler syndrome

Antley Bixler syndrome Relevant markers:

Absent nasal bridgeBowed femurBowed ulnaBrachycephalyCraniosynostosis of coronal sutureExophthalmiaFixed flexed elbowHypoplastic thoracic cageLong fingersLong handsMicrognathia/retrognathiaNarrow thoraxNasal bone hypoplasia / aplasiaOpen mouthPalpebral edemaProptosis/prominent eyesRadius-ulna fusionRhizomelia/short humerusShort radiusShort ulnaTrigonocephalyRadiohumeral synostosisMidface/maxillary hypoplasia

Parents markers:

Craniosynostosis

Incidence:

1/1000000 — -

Involved genes:
(gene — definition — chromosome)

CYTOCHROME P450 OXIDOREDUCTASE — POR — 7q11.23 , FGFR2 — FIBROBLAST GROWTH FACTOR RECEPTOR 2 — 10q26.13

Inheritance mode:

AD, AR

Other online databases:

OrphaNet, OMIM, Geneva Foundation

Links:

omim.org

References:

1982	Prenat Diagn	Case report	Read on PubMed
1983	Am J Med Genet	Case report	Read on PubMed
2001	J Ultrasound Med	Case report	Read on PubMed
2015	Am J Case Rep	Case report	Read on PubMed
2016	Birth Defects Res A Clin Mol Teratol	Case series (3 cases)	Read on PubMed