Mckusick-Kaufman Syndrome Presenting as Acute Intestinal Obstruction
نویسندگان
چکیده
Hydrometrocolpos and polydactyly have been associated with many syndromes and can present at any age. Rarely does hydrometrocolpos present as neonatal intestinal obstruction. We report two cases of McKusick-Kaufman syndrome presenting with intestinal obstruction. In both cases, intestinal obstruction got relieved after a cutaneous vaginostomy.
منابع مشابه
Mckusick Kaufman Syndrome Accompanied by Congenital Laryngomalacia, Intestinal Malrotation and Hypothalamic Hamartom
McKusick-Kaufman syndrome is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos, postaxial polydactyly and congenital cardiac disease. The syndrome is caused by mutations in the MKKS gene mapped onto chromosome 20p12. Diagnosis of this syndrome is based on clinical and imaging findings. In our paper, we have presented the first McKusi...
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عنوان ژورنال:
دوره 2 شماره
صفحات -
تاریخ انتشار 2013