A Case of Hydrometrocolpos and Polydactyly
نویسندگان
چکیده
Neonatal hydrometrocolpos (HMC) is a rare Mullerian duct anomaly with an incidence of 0.006%. It occurs due to blockage of the vagina with accumulation of mucus secretions proximal to the obstacle. These secretions are secondary to intrauterine and postnatal stimulation of uterine and cervical glands by maternal estrogens. A triad of congenital HMC, polydactyly, and cardiac anomalies are the cardinal features of McKusick-Kaufman syndrome, which is also known as hydrometrocolpos-polydactyly syndrome. Bardet-Biedl syndrome is a well-known combination of hypogonadism, obesity, postaxial polydactyly, renal dysplasia, retinal degeneration, and mental impairment. In this case report, we describe a neonate with HMC, polydactyly, and hydronephrosis.
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Hydrometrocolpos Urogenital sinus Multiple malformations Abstract A case of hydrometrocolpos with vaginal opening to the bladder is presented. A newborn female presented abdominal distention and postaxial polydactyly at birth. Clinical investigation revealed hydrometrocolpos, precocious puberty, urogenital sinus and other multiple malformations. The vagina was open to the bladder with a small o...
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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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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.
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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.
متن کاملHydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.
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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