Mckusick-Kaufman Syndrome: Diagnosis and Management
نویسندگان
چکیده
A female newborn, a product of consanguineous marriage born by caesarian section delivery with a birth weight of 3.75 kg, was admitted to our hospital with abdominal distension. Antenatal ultrasound showed congenital heart disease and a pelvic mass. On examination, she had lower abdominal mass emanating from the pelvis. There was polydactly and syndactly of the right hand and polydactly of the right foot. There was also an anterior ectopic anus. Cardiovascular work up revealed common atrio-ventricular (A-V) canal with single atrium, moderate patent ductus arteriosus and severe A-V regurgitation. Abdominal ultrasound and CT-scan showed hydrometrocolpos with bilateral hydronephrosis and left perinephric fluid collection (Fig. 1). Surgery revealed hydrometrocolpos secondary to a low vaginal atresia. An abdomino-perineal vaginal pull through was performed. Postoperative period was uneventful.
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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McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. Bardet-Biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis pigmen...
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BACKGROUND AND OBJECTIVES Mckusick-Kaufman syndrome is an uncommon disease, typically characterized by hydrometrocolpos, polydactyly and congenital heart defects. These patients are often submitted to different surgical procedures throughout their lives and the anesthesiologist must be prepared to deal with possible complications. This article aimed at reporting the anesthetic management adopte...
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McKusick-Kaufman syndrome is a rare autosomal recessive disease diagnosed by polydactyly, hydrometrocolpos, and congenital heart disease. We present an unusual laparotomy confirmed urogenital MRI finding (atretic vaginal pouch) in a 3-month-old girl with McKusick-Kaufman syndrome. Up to our knowledge, this MR finding has not been reported in the literature yet.
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