Literature DB >> 8326500

Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome?

C E de Die-Smulders1, R P Droog, M van Dijk, J P Fryns.   

Abstract

A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome.

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Mesh：

Year:  1993        PMID： 8326500      PMCID： PMC1016432          DOI： 10.1136/jmg.30.6.525

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


  2 in total

1.  FAMILIAL LOW BIRTHWEIGHT DWARFISM WITH AN UNUSUAL FACIES AND A SKIN ERUPTION.

Authors:  V DUBOWITZ
Journal:  J Med Genet       Date:  1965-03       Impact factor: 6.318

2.  Dubowitz syndrome.

Authors:  R M Winter
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318
  2 in total
  1 in total

Review 1.  A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

Authors:  T Cai; D A Tagle; X Xia; P Yu; X X He; L Y Li; J H Xia
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318
  1 in total

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