Literature DB >> 8423614

Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome?

K Méhes1.   

Abstract

A 4 year 9 month old boy and his 3 year 5 month old sister presented with delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases. The same features were found in their mother, but the father had no such anomalies. To our knowledge this familial association has not been described before and may represent an autosomal dominant syndrome.

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Mesh:

Year:  1993        PMID: 8423614      PMCID: PMC1016241          DOI: 10.1136/jmg.30.1.76

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


  1 in total

1.  Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ears--a new syndrome?

Authors:  F Char
Journal:  Birth Defects Orig Artic Ser       Date:  1978
  1 in total

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