[Hypochondroplasia. Review of 80 cases].
The review of 80 unpublished cases of hypochondroplasia revealed the difficulty of the diagnosis. A careful clinical and radiological study is necessary. The diagnosis is especially difficult if the spine is normal. Hypochondroplasia is also close to minor forms of achondroplasia. The transmission is autosomal dominant and the paternal age is increased like in the achondroplasia.
Maroteaux
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P
l'Unité de Recherches de Génétique Médicale, INSERUM U 12 et CNRS UA 584, Hôpital des Enfants-Malades, Paris.
Falzon
P
P
D000130:Achondroplasia / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006130:Growth Disorders / Q000209:etiology; D006132:Growth Plate / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging
Hypochondroplasie. Revue de 80 cas.