Osseous dysplasia with severe short stature, multiple dislocations, and delayed bone age: Report on a second Lebanese patient

We describe a young girl with severe pre‐ and postnatal short stature, bilateral dislocation of hips, knees and elbows, and right clubfoot. Skeletal investigations disclosed an anisospondyly, the absence of ossification of the odontoid apophysis and of fusion of the neural arches of the cervical vertebrae, abnormal L3 and L4 vertebrae, partial agenesis of the coccyx, abnormal and sub‐luxated radial heads, bilateral dislocation of the hips, dysplastic acetabulae, pseudoacetabulae, hypoplasia of the femoral heads, short femoral necks, short long bones with thin diaphyses, widening of the medullary canal and thinning of the cortical one, slightly enlarged metaphyses, and diffuse osseous demineralization. Bone age was delayed. The girl's parents are first cousins. Differential diagnoses are discussed and the possibility is raised that this might be a second patient with clinical features indicating an entity recently described in a young Lebanese boy [Mégarbané and Ghanem (2004); Am J Med Genet Part A 130A: 107–109]. A clinical follow‐up of the latter patient is also reported. © 2007 Wiley‐Liss, Inc.