Wiedemann-Rautenstauch syndrome.
نویسندگان
چکیده
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.
منابع مشابه
Wiedemann - Rautenstauch Syndrome
Acknowledgment: We thank Dr Ken Maclean, Clinical Geneticist, Gutav Nossal NH & MRC scholar. Victor Chang Cardiac Research Institute, Australia and Dr Gregory Peters Luke St.Heaps, of the Cytogenetics Dept, Children’s Hospital at Westmead, Sydney, Australia, for carrying out all of the FISH studies described herein. Contributors: SK made the diagnosis, was responsible for literature search; SBD...
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 48 9 شماره
صفحات -
تاریخ انتشار 2011