Literature DB >> 2352265

Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.

M E Porteous1, J Burn.   

Abstract

The proband, the first child of unrelated parents, was noted in infancy to have microcephaly, developmental delay, dysmorphic facies, hypotonia, a small penis with cryptorchidism, and a fixed flexion deformity of his left index finger. His maternal uncle is severely retarded and has similar dysmorphic facies.

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Year:  1990        PMID: 2352265      PMCID: PMC1017089          DOI: 10.1136/jmg.27.5.339

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


  1 in total

1.  Conference report: International Workshop on the fragile X and X-linked mental retardation.

Authors:  J M Opitz; G R Sutherland
Journal:  Am J Med Genet       Date:  1984-01
  1 in total
  4 in total

1.  The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.

Authors:  A O Wilkie; M E Pembrey; R J Gibbons; D R Higgs; M E Porteous; J Burn; R M Winter
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

Review 2.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

3.  X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.

Authors:  A O Wilkie; R J Gibbons; D R Higgs; M E Pembrey
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

Review 4.  A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.

Authors:  R J Gibbons; A O Wilkie; D J Weatherall; D R Higgs
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

  4 in total

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