Article: Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan.
Perioperative medicine (London, England)
2020 Volume 9, Page(s) 4
Abstract: Waardenburg-Shah syndrome is a rare autosomal recessive [AR] inherited disorder characterized ...
Abstract | Waardenburg-Shah syndrome is a rare autosomal recessive [AR] inherited disorder characterized by the presence of Hirschsprung's disease with a high likelihood of aganglionic megacolon, due to which the mortality is high. The management of the condition involves surgical intervention for the removal of the aganglionic segment of the colon. Here, we report a neonate that presented with a white forelock, white eyelashes, iris hypopigmentation, and sensorineural deafness associated with bilious vomiting, refusal to feed, and failure to pass meconium indicating intestinal obstruction. |
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Language | English |
Publishing date | 2020-01-24 |
Publishing country | England |
Document type | Journal Article |
ZDB-ID | 2683800-X |
ISSN | 2047-0525 |
ISSN | 2047-0525 |
DOI | 10.1186/s13741-019-0135-x |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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