Literature DB >> 6876117

Additional manifestations of the Neu-Laxova syndrome.

S B Turkel, A J Ebbin, J W Towner.   

Abstract

A newborn female with intrauterine growth retardation, bilateral cleft lip and palate, absent external nares and eyelids, low set ears, short contracted limbs, webbed digits, intestinal malrotation, and unilateral renal agenesis is reported. These multiple malformations are considered part of the Neu-Laxova syndrome.

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Year:  1983        PMID: 6876117      PMCID: PMC1049055          DOI: 10.1136/jmg.20.3.227

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


  7 in total

1.  [Fatal syndrome of multiple malformations in 3 siblings].

Authors:  V Povýsilová; M Macek; J Salichová; E Seemanová
Journal:  Cesk Pediatr       Date:  1976-04

2.  A further example of a lethal autosomal recessive condition in sibs.

Authors:  R Laxova; P T Ohara; J A Timothy
Journal:  J Ment Defic Res       Date:  1972-06

3.  Heritable fragile site on chromosome 16: probable localization of haptoglobin locus in man.

Authors:  R E Magenis; F Hecht; E W Lovrien
Journal:  Science       Date:  1970-10-02       Impact factor: 47.728

4.  Familial normal-partial trisomy 16 with selective endoreduplication in malformed proband.

Authors:  M E Drets; J H Cardoso; A H Delfino; J Carrau
Journal:  Cytogenetics       Date:  1970

5.  A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings.

Authors:  R L Neu; T Kajii; L I Gardner; S F Nagyfy
Journal:  Pediatrics       Date:  1971-03       Impact factor: 7.124

6.  The genetic structure of the Utah Mormons: migration analysis.

Authors:  L B Jorde
Journal:  Hum Biol       Date:  1982-09       Impact factor: 0.553

7.  Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.

Authors:  G I Lazjuk; I W Lurie; T I Ostrowskaja; E D Cherstvoy; I A Kirillova; M K Nedzved; S S Usoev
Journal:  Am J Med Genet       Date:  1979
  7 in total

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