Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.
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.
Mégarbané
André
A
Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
Maroteaux
Pierre
P
Caillaud
Catherine
C
Le Merrer
Martine
M
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000473:pathology; D002648:Child; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography