Literature DB >> 3225826

A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation.

T Sonoda1, S Ohdo, H Madokoro, K Ohba.   

Abstract

We report three sibs with congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, developmental retardation, relatively dark skin, and high axial triradius. The chromosomes of the three patients were normal and the parents were unrelated, healthy, and of normal intelligence. The mother denied infections, drinking, drug intake, or exposure to known teratogenic agents during each pregnancy.

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Year:  1988        PMID: 3225826      PMCID: PMC1051567          DOI: 10.1136/jmg.25.10.711

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


  2 in total

1.  A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.

Authors:  R D Jefferson; J Burn; K L Gaunt; S Hunter; E V Davison
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

2.  A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.

Authors:  A Schinzel; A Giedion
Journal:  Am J Med Genet       Date:  1978
  2 in total

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