LAHORE -- The first-ever successful operation of Winchester syndrome of a eight-year-old boy in country's history was performed here at Hameed Lateef Hospital on Sunday.
To a question, Dr Muaaz said Winchester Syndrome was a rare inherited disease, characterised by a loss of bone tissue (osteolysis), particularly in hands and feet.
The major signs of Winchester syndrome are short stature, coarse facial features, a flat nose, swollen joints, stiffening of joints (contractures), deterioration of (resorption) bone, particularly in the hands, feet, elbows and knees, he added.
Winchester syndrome is a rare inherited disease characterized by severe osteolysis particularly in the hands and feet, generalized osteoporosis and absence of subcutaneous nodules.
KEY WORDS: Winchester Syndrome; Osteoporosis; Osteolysis
Winchester syndrome is an extremely rare disorder inherited as an autosomal recessive trait.
Here, we report a case of a middle-aged woman with Winchester syndrome. Rheumatoid factor was negative.
The winchester syndrome: A nonlysosomal connective tissue disease.
There is one difference though: that throughout his life, Shyam has also dealt with a disability in the form of Winchester Syndrome
, a rare life-limiting congenital connective tissue disease.
(OMIM 277950), systemic fibromatosis (OMIM 228550), stiff skin syndrome (OMIM 184900), lipoid proteinosis (OMIM 247100), and storage diseases including mucopolysacharoses, sphingolipidoses and mucilipidoses [Osterby et al., 2002; Zolkpi et al., 2003; Lim et al., 2005; Yayli et al., 2006; Al-Mayouf 2007; ,Al-Malik et al., 2007; Shieh et al., 2008; Al-Mubarak et al., 2009].