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A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation
  1. M T Johnson1,2,
  2. S Morrison3,
  3. S Heeger1,
  4. S Mooney4,
  5. P H Byers4,
  6. N H Robin1,2
  1. 1Center for Human Genetics, University Hospitals of Cleveland, Cleveland, OH, USA
  2. 2Department of Pediatrics, University Hospitals of Cleveland, Cleveland, OH, USA
  3. 3Department of Radiology, Cleveland Clinic Foundation, Cleveland, OH, USA
  4. 4Departments of Pathology and Medicine, University of Washington, Seattle, WA, USA
  1. Correspondence to:
 Dr N H Robin, Center for Human Genetics, Lakeside 1500, Cleveland, OH 44106-6506, USA;
 nhr2{at}po.cwru.edu

https://doi.org/10.1136/jmg.39.2.128

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    Congenital kyphomelia, or bowing of the femora, is associated with a number of skeletal dysplasias that include campomelic dysplasia, Stüve-Wiedemann dysplasia, Bruck syndrome, Antley-Bixler syndrome, Fuhrmann syndrome, and osteogenesis imperfecta (OI).12 In most reported cases, the femora become progressively more angulated with age. However, spontaneous resolution of congenitally bowed femora has been recognised to occur in a small number of cases associated with either OI or a rare skeletal dysplasia known as kyphomelic dysplasia (KD).3–5

    Osteogenesis imperfecta is a connective tissue disorder that is caused in more than 90% of cases by an abnormality of type I collagen. Clinical manifestations of OI may include bone fragility and/or deformities, blue sclerae, short stature, joint laxity, deafness, Wormian bones, and dental abnormalities. Owing to considerable phenotypic variability in OI, a classification system based on clinical, genetic, and radiographic characteristics has been used for the last 20 years to divide this diagnostic category into four broad clinical subtypes.6 While all types of OI may present with congenital bowing of the long bones, especially the femora, this finding is most commonly associated with types II and III, the neonatal lethal and progressively deforming types, respectively.

    In 1983, Maclean et al described an infant with broad, angulated femora and several minor skeletal abnormalities that included a narrow thorax, platyspondyly, and micrognathia.7 An unusual feature of the proband's skeletal deformity was that the bowing improved considerably over the first six months of life. The pattern of skeletal involvement and the atypical natural history were felt to represent a novel skeletal dysplasia that was named “kyphomelic dysplasia” (OMIM 211350). Over the subsequent two decades, at least 15 cases with phenotypic similarities to kyphomelic dysplasia have been reported.8 Other phenotypic findings noted in some cases of apparent KD include dimpling of …

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