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  • Title: Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome?
    Author: Antich J, Iriondo M, Lizarraga I, Manzanares R, Cusi V.
    Journal: Genet Couns; 1993; 4(3):207-11. PubMed ID: 8267929.
    Abstract:
    We report a newborn with radiohumeral synostosis, femoral bowing, anal atresia, a prominent nose (pear shaped nose), slender ribs, long tapering fingers with distal camptodactyly, genital hypoplasia and a neonatal humeral fracture. Among the possible differential diagnoses a variant example of Antley-Bixler syndrome is considered to be the most likely final diagnosis.
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