Premium
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo‐Morquio type II syndrome): Report of a new patient and review of the literature
Author(s) -
Mégarbané André,
Maroteaux Pierre,
Caillaud Catherine,
Le Merrer Martine
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20442
Subject(s) - brachydactyly , genu valgum , medicine , pectus carinatum , short stature , anatomy , surgery , pediatrics , pectus excavatum
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.