Literature DB >> 1505577

McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period.

C Schaap1, C E de Die-Smulders, R H Kuijten, J P Fryns.   

Abstract

We report a newborn girl with McKusick-Kaufman syndrome who presented at birth with severe life-threatening abdominal distension due to hydrometrocolpos. In children with polydactyly and cystic masses in the lower abdomen should hydrometrocolpos be especially considered. Ultrasonography is of great value in the correct assignment of lower abdominal tumours, but should be completed by vagino(cysto)scopy when hydrometrocolpos is suspected.

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Year:  1992        PMID： 1505577     DOI： 10.1007/bf01957727

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  11 in total

1.  HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION.

Authors:  V A MCKUSICK; R L BAUER; C E KOOP; R B SCOTT
Journal:  JAMA       Date:  1964-09-14       Impact factor: 56.272

2.  Hydrometrocolpos: report of three cases and review of the literature.

Authors:  R SPENCER; D M LEVY
Journal:  Ann Surg       Date:  1962-04       Impact factor: 12.969

3.  Abdominal distension as the first echographic sign of hydrometrocolpos in a female fetus.

Authors:  P Petit; D Thomas; P Moerman; J P Fryns
Journal:  Eur J Obstet Gynecol Reprod Biol       Date:  1991-04-16       Impact factor: 2.435

Review 4.  Rare syndromes. The Kaufman-McKusick syndrome. A review of the 44 cases reported in the literature.

Authors:  A Cantani; M L Tacconi; N Benincori; A Picarazzi; D Ceccoli; S Gaudino
Journal:  Ann Genet       Date:  1987

5.  Hydrometrocolpos--polydactyly syndrome in a macerated female foetus.

Authors:  M Haspeslagh; J P Fryns; K Van den Berghe; P Goddeeris; J Lauweryns; H Van den Berghe
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

6.  Abdominal distension in Kaufman-McKusick syndrome.

Authors:  S A Farrell; R G Davidson; J E DeMaria; L Grant; A Toi
Journal:  Am J Med Genet       Date:  1986-10

7.  Pathogenesis of the prune-belly syndrome: a functional urethral obstruction caused by prostatic hypoplasia.

Authors:  P Moerman; J P Fryns; P Goddeeris; J M Lauweryns
Journal:  Pediatrics       Date:  1984-04       Impact factor: 7.124

8.  Further delineation of the McKusick-Kaufman hydrometrocolpos-polydactyly syndrome.

Authors:  D Chitayat; S Y Hahm; R W Marion; G S Sachs; D Goldman; R G Hutcheon; R Weiss; S Cho; H M Nitowsky
Journal:  Am J Dis Child       Date:  1987-10

9.  Hydrometrocolpos in neonate due to distal vaginal atresia.

Authors:  L Nguyen; S Youssef; F M Guttman; L S Ahlgren; R Schlechter
Journal:  J Pediatr Surg       Date:  1984-10       Impact factor: 2.545

10.  Hydrops fetalis in the McKusick-Kaufman syndrome: a case report.

Authors:  R S Rosen; M E Bocian
Journal:  Am J Obstet Gynecol       Date:  1991-07       Impact factor: 8.661
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  3 in total

Review 1.  Hydrometrocolpos etiology and management: past beckons the present.

Authors:  Kashish Khanna; Shilpa Sharma; D K Gupta
Journal:  Pediatr Surg Int       Date:  2017-11-24       Impact factor: 1.827

2.  Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

Authors:  A David; P Bitoun; D Lacombe; J C Lambert; A Nivelon; J Vigneron; A Verloes
Journal:  J Med Genet       Date:  1999-08       Impact factor: 6.318

Review 3.  Clinical spectrum of female genital malformations in prenatal diagnosis.

Authors:  Michael R Mallmann; Ulrich Gembruch
Journal:  Arch Gynecol Obstet       Date:  2022-02-27       Impact factor: 2.344
  3 in total

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