Literature DB >> 1776630

Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies.

S Kapur1, H V Toriello.   

Abstract

We report on a sister and brother with severe mental retardation, bulbous tip of the nose, long columella, cleft lip and palate, heart and intestinal anomalies, and growth retardation. This appears to be a previously unreported, autosomal recessive condition, given high resolution prometaphase chromosomes are normal.

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Year:  1991        PMID: 1776630     DOI: 10.1002/ajmg.1320410407

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

Review 1.  Ocular coloboma: a reassessment in the age of molecular neuroscience.

Authors:  C Y Gregory-Evans; M J Williams; S Halford; K Gregory-Evans
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

Review 2.  Review of genetic factors in intestinal malrotation.

Authors:  Vicki Martin; Charles Shaw-Smith
Journal:  Pediatr Surg Int       Date:  2010-06-13       Impact factor: 1.827

3.  Achiasma and Kapur-Toriello syndrome: Two rare entities.

Authors:  Grant A Justin; Keith E Earley; Justin G Peacock; Aaron D Grant
Journal:  Am J Ophthalmol Case Rep       Date:  2019-06-05
  3 in total

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