Wiedemann - Rautenstauch Syndrome
نویسنده
چکیده
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 and DS prepared the manuscript; SK and RA critically evaluated the paper and gave the final approval. Funding: None. Competing interests: None stated.
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Wiedemann-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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