Humero-radial synostosis

Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.

Choanal stenosis

Abnormal narrowing of the choana (the posterior nasal aperture).


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PMID (PMCID)
6829602
 FEMALE Infant, Newborn
Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus.
Schinzel A, Savoldelli G, Briner J, Sigg P, Massini C.
Am J Med Genet. 1983;14(1):139-47.
The first infant died at 14 days of respiratory failure and the following findings characteristic of the syndrome: craniosynostosis of coronal and lambdoid sutures, brachycephaly, frontal bossing, severe midface hypoplasia with proptosis and choanal stenosis/atresia, humero-radial synostosis, medial bowing of ulnae, long slender fingers with camptodactyly, narrow iliac wings, anterior bowing of femora, cardiac and renal malformations.