Literature DB >> 1956062

Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?

I M Winship1, D L Viljoen, P M Leary, M M De Moor.   

Abstract

A distinctive phenotype of severe microcephaly and self-limiting dilated cardiomyopathy has been observed in two sibs suggesting autosomal recessive inheritance. Mental retardation, delayed developmental milestones, and minor dysmorphism were additional features.

Entities:  

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Year:  1991        PMID： 1956062      PMCID： PMC1015794          DOI： 10.1136/jmg.28.9.619

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


  8 in total

1.  External Ophthalmoplegia, Pigmentary Degeneration of the Retina, and Cardiomyopathy: A Newly Recognized Syndrome.

Authors:  T P Kearns
Journal:  Trans Am Ophthalmol Soc       Date:  1965

2.  Microcephaly, mild mental retardation, short stature, and skeletal anomalies in siblings.

Authors:  E H Zackai; W S Sly; W G McAlister
Journal:  Am J Dis Child       Date:  1972-07

3.  Autosomal recessive microcephaly and micromelia in Cree Indians.

Authors:  E J Ives; C S Houston
Journal:  Am J Med Genet       Date:  1980

Review 4.  Ultrasound visualization of congenital malformations.

Authors:  S Campbell; J M Pearce
Journal:  Br Med Bull       Date:  1983-10       Impact factor: 4.291

5.  Familial cardiomyopathy, hypogonadism, and collagenoma.

Authors:  H N Sacks; I S Crawley; J A Ward; R M Fine
Journal:  Ann Intern Med       Date:  1980-12       Impact factor: 25.391

6.  Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers.

Authors:  B Say; N Barber; G C Miller; S E Grogg
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

7.  Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child.

Authors:  J L Tolmie; M McNay; J B Stephenson; D Doyle; J M Connor
Journal:  Am J Med Genet       Date:  1987-07

8.  Autosomal recessive nonsyndromal microcephaly with normal intelligence.

Authors:  A S Teebi; S A Al-Awadi; A G White
Journal:  Am J Med Genet       Date:  1987-02
  8 in total
  1 in total

1.  The contribution of South Africans to the subject of dilated cardiomyopathy - with reference to : cardiovascular collagenosis with parietal endocardial thrombosis : a clinicopathologic study of forty cases.

Authors:  D A Watkins; B M Mayosi
Journal:  Cardiovasc J Afr       Date:  2009 Jan-Feb       Impact factor: 1.167
  1 in total

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