Literature DB >> 2614803

Unknown syndrome: pachygyria, joint contractures, and facial abnormalities.

R M Winter1, B N Harding, J Hyde.   

Abstract

A male infant, the offspring of a father-daughter mating, is described. He had a lethal condition consisting of brachycephaly, large fontanelles, a flat face, a small nose with thin nares, hypertelorism, small ears with cystic pinnae, camptodactyly, talipes equinovarus, and hypoplastic lungs and kidneys. The brain was very short in the anterior-posterior diameter with simplified broad convolutions (a form of pachygyria).

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Mesh：

Year:  1989        PMID： 2614803      PMCID： PMC1015766          DOI： 10.1136/jmg.26.12.788

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  1 in total

Review 1.  Further comments on the lissencephaly syndromes.

Authors:  W B Dobyns; E F Gilbert; J M Opitz
Journal:  Am J Med Genet       Date:  1985-09
  1 in total
  3 in total

1.  Pachygyria, joint contractures, and facial abnormalities: a new lethal syndrome.

Authors:  M Tsukahara; Y Sugio; T Kajii; M Takahashi; M Hirota; H Kato
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

2.  Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.

Authors:  Sahar Mansour; Marielle Swinkels; Paulien A Terhal; Louise C Wilson; Philip Rich; Lionel Van Maldergem; Petra J G Zwijnenburg; Christine M Hall; Stephen P Robertson; Ruth Newbury-Ecob
Journal:  Eur J Hum Genet       Date:  2012-04-04       Impact factor: 4.246

3.  A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation.

Authors:  Ai Peng Tan; Kshitij Mankad
Journal:  Childs Nerv Syst       Date:  2017-10-24       Impact factor: 1.475
  3 in total

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