Weill-Marchesani syndrome: report of an unusual case

We report a single case of Weill-Marchesani syndrome, typically characterized by progressive joint stiffness, brachiymorphy, brachydactyly, and ectopia lentis. The clinical case appears particularly interesting as the patient also had primary osteoporosis, which until now has not been considered as...

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Veröffentlicht in:	Calcified tissue international 1997-04, Vol.60 (4), p.358-360
Hauptverfasser:	Giordano, N, Senesi, M, Battisti, E, Mattii, G, Gennari, C
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biomarkers - blood Bone Density Bone Diseases, Metabolic - diagnostic imaging Bone Diseases, Metabolic - genetics Bone Diseases, Metabolic - metabolism Connective Tissue Diseases - complications Connective Tissue Diseases - genetics Connective Tissue Diseases - metabolism Connective Tissue Diseases - pathology Dwarfism - complications Dwarfism - genetics Dwarfism - metabolism Dwarfism - pathology Humans Male Osteoporosis - etiology Osteoporosis - metabolism Phenotype Radiography Syndrome
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Zusammenfassung:	We report a single case of Weill-Marchesani syndrome, typically characterized by progressive joint stiffness, brachiymorphy, brachydactyly, and ectopia lentis. The clinical case appears particularly interesting as the patient also had primary osteoporosis, which until now has not been considered as a possible manifestation of Weill-Marchesani syndrome.
ISSN:	0171-967X 1432-0827
DOI:	10.1007/s002239900243