[Marchesani's syndrome (spherophakia-brachymorphism)].
The authors report the case of a patient with spherophakia and brachymorphism (Marchesani syndrome). This congenital and familial disorder is characterized by short stature, short limbs and thick extremities, limitation of joint mobility, a peculiar facies and spherophakia (rounded lens). Mentality is normal. The patient presented here, an eleven-year-old girl, had in addition a subvalvular fibromuscular aortic stenosis. A detailed radiological survey of the skeleton demonstrated a disorder of enchondral growth, particularly evident in the extremities, with short and wide diaphyses, thin cortical bone, and relatively discrete epiphyseal deformities. The vertebral bodies were slightly rounded anteriorly, th discs were thinned, and the ribs widened. The spinal canal and the foramen magnum were narrowed, and the lateral processes short and wide. There was thickening of the skull vault. A mucopolysaccharidosis and a mucolipidosis were excluded by biochemical study of skin fibroblasts in culture.
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D002648:Child; D005260:Female; D006801:Humans; D007908:Lens, Crystalline / Q000002:abnormalities; D013577:Syndrome
Le syndrome de Marchesani (sphérophakie-brachymorphie).