Craniofacial anomalies, humero-radial synostosis, rhizomelic limb shortness: previously unrecognized autosomal recessive syndrome.
Humero-radial synostosis (HRS) is a rare skeletal anomaly that might be seen in some craniosynostosis syndromes, notably Antley-Bixler syndrome, and in other disorders in association with skeletal anomalies. Here we report on two daughters of first cousin Saudi parents with syndromic HRS. Both patients had distinctive craniofacial features including cranium bifidum occultum, hypertelorism, epicanthus inversus, capillary hemangiomata, and malformed ears. Musculoskeletal examination revealed rhizomelic shortness with normal hands and feet. Skeletal survey showed bilateral HRS with no evidence of craniosynostosis. The craniofacial manifestations in these two patients do not match any of the syndromes known to be associated with HRS. We consider that the constellation is unique and apparently represents a previously unrecognized syndrome.
Al-Hassnan
Zuhair N
ZN
Department of Medical Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Teebi
Ahmad S
AS
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities; D003398:Craniosynostoses / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D017880:Limb Deformities, Congenital / Q000473:pathology*; D035781:Siblings; D013577:Syndrome