Literature DB >> 135512

Growth failure with pericardial constriction. The syndrome of mulibrey nanism.

M L Voorhess, G S Husson, M S Blackman.   

Abstract

The features of the syndrome of mulibrey nanism, an autosomal recessive disorder of unknown pathogenesis, include severe growth failure, yellow pigmentation of the retina, evidence of pericardial constriction, J-shaped sella turcica, and fibrous dysplasia of bones. To date, 24 individuals from Finland and a boy from Egypt have been reported with the syndrome. The patient reviewed in this article is the first known affected child from the United States. It is important that physicians look for this disorder in children with severe growth failure and hepatomegaly because of the potential seriousness of undetected pericardial constriction.

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Year:  1976        PMID: 135512     DOI: 10.1001/archpedi.1976.02120110108017

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


  3 in total

1.  Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.

Authors:  K Avela; M Lipsanen-Nyman; J Perheentupa; C Wallgren-Pettersson; S Marchand; S Fauré; P Sistonen; A de la Chapelle; A E Lehesjoki
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

2.  Mulibrey nanism: clinical features and diagnostic criteria.

Authors:  N Karlberg; H Jalanko; J Perheentupa; M Lipsanen-Nyman
Journal:  J Med Genet       Date:  2004-02       Impact factor: 6.318

3.  Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome.

Authors:  Tahereh Davarpasand; Maryam Sotoudeh Anvari; Mohammad Naderan; Mohammad Ali Boroumand; Hossein Ahmadi
Journal:  J Tehran Heart Cent       Date:  2016-10-03
  3 in total

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