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Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): Report of a new patient and review of the literature

✍ Scribed by André Mégarbané; Pierre Maroteaux; Catherine Caillaud; Martine Le Merrer

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
286 KB
Volume
125A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

An 11‐year‐old girl was seen with short stature, a head positioned in hyperextension, mild arched palate, prominent joints, limited elbow movements, hyperextensible wrists and fingers, brachydactyly, broad thorax, pectus carinatum, short trunk, a genu valgum, and flat feet. A radiographic skeletal survey revealed a generalized osteoporosis, platyspondyly, thoracic kyphoscoliosis, small and square iliac wings, short femoral necks, dysplastic epiphyses, flared metaphyses and brachydactyly with various carpal, metacarpal, and finger malformations. These features are very close to a very rare entity: the spondyloepimetaphyseal dysplasia (SEMD) of Maroteaux or “pseudo‐Morquio” type II syndrome, whose specific radiological characteristics are found in this case. © 2003 Wiley‐Liss, Inc.

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