Five children from three unrelated families were bom with symmetrical contractures of the knees, ankles and feet. An initial diagnosis of arthrogryposis multiplex was made, but frequent fracturing occurred after walking commenced and it was then recognised that the children had osteogenesis imperfecta. The pathogenesis of the congenital contractures is unknown, but the symmetry and lack of evidence of prior fracturing is suggestive of articular immobility during early intra‐uterine development. The consistency of the anatomical distribution of the contractures, in the setting of a uniform 01 phenotype, is suggestive of syndromic identity. A similar case was documented by Alfred Bruck in 1897 and we propose that the eponymous designation “Bruck syndrome” should be applied to the disorder.

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In a survey of Black patients with osteogenesis imperfecta (OI) attending the Baragwanath Hospital, Johannesburg, the severe autosomal recessive OI type III was recognized in 21, of whom 18 lived in the Johannesburg area. By contrast only 5 had the ostensibly common mild autosomal dominant OI type I. The estimated minimum population frequency is 0.6 per hundred thousand for OI type III in this group and 0.1 per hundred thousand for OI type I. These figures are the reverse of those calculated for White Australians, where the ratio between OI type I and III is of the order of 7 to 1. This anomalous situation has important genetic and practical implications.

Polyostotic fibrous (McCune-Albright) dysplasia is an uncommon nonhereditable disorder characterized by localized or widespread cystic changes in the skeleton. The limb bones are predominantly affected; craniofacial involvement is rare. We have encountered a severely affected man, with the additional manifestation of massive craniofacial hyperostosis. It is questionable whether this condition is an autonomous entity or represents the end of the spectrum of severity of polyostotic fibrous dysplasia.

No abstract