Craniofacial anomalies, humero‐radial synostosis, rhizomelic limb shortness: Previously unrecognized autosomal recessive syndrome

Abstract

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.

Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980–2012

“…Guilherme et al () reported two siblings with HRS and other anomalies, which appear to be a separate entity from any of the above syndromes. Al‐Hassnan and Teebi () categorized HRS into five groups: craniosynostosis, symphalangism, limb reduction, with other skeletal defects, and secondary teratogens.…”

The effect of maleated polylactic acid (PLA) as an interfacial modifier in PLA‐talc composites

“…HRS occurs in association with microcephaly in a number of multiple malformation syndromes [Ramer and Ladda, 1989]. In a recent review Al‐Hassnan and Teebi [2007] concluded that syndromic HRS can be categorized into five groups: (i) craniosynostosis syndromes, (ii) symphalangism syndromes, (iii) limb reduction syndromes, (iv) syndromes with other skeletal defects, and (v) those secondary to teratogens. It is difficult to classify our cases into any one of these specific categories because our patients showed an overlap with 4 different syndromes specifically; Antley and Bixler [1975], Pfeiffer [1964] and specially Ives and Houston [1980] and Keutel et al [1970] syndromes (Table II).…”