Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Weill-Marchesani syndrome: report of an unusual case.
Giordano N, Senesi M, Battisti E, Mattii G, Gennari C. Calcif Tissue Int. 1997;60(4):358-60.
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.
