Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients.
نویسندگان
چکیده
Wiedemann-Rautenstrauch (WR) syndrome is known as a neonatal progeroid syndrome, with only few published case reports. We describe three additional patients, two of them sibs, showing the clinical features of WR syndrome. Skeletal abnormalities are reported and assays of hormones and lipids are presented in one patient. Disturbance in bone maturation and lipid and hormone metabolism appear to be involved in this neonatal progeroid syndrome.
منابع مشابه
Neonatal progeroid syndrome (Weidman Rautenstrauch syndrome): A case report from Jammu &Kashmir, India.
A female one month old with features supporting a diagnosis of neonatal progeroid syndrome(WRS) presented to our neonatology section of GB pant children hospital Srinagar .she had prenatal and post natal growth failure, generalized lipotrophy, triangular face, psedohydrocephalous, sparse scalp hair and eye brows, prominent scalp veins and greatly widened anterior fontenella.
متن کاملWiedemann-Rautenstauch syndrome.
Wiedemann Rautenstauch (WR) syndrome is a rare autosomal recessive neonatal progeroid syndrome with only few published case reports. We describe a neonate showing clinical features of WR syndrome with peeling of skin, and presented with weak cry and breathing difficulty since birth.
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متن کاملIn vitro osteogenic differentiation is affected in Wiedemann-Rautenstrauch-Syndrome (WRS).
BACKGROUND Wiedemann-Rautenstrauch (neonatal progeroid) syndrome (WRS) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (hypotrichosis, macrocephaly, mental retardation, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other skeletal abnormalities). To date, there are no da...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 34 5 شماره
صفحات -
تاریخ انتشار 1997