Literature DB >> 7328620

Ectrodactyly, cleft lip and palate in two half sibs.

M B Lewis, H M Pashayan.   

Abstract

Two half sibs with bilateral complete cleft lip and complete cleft of the palate associated with ectrodactyly of the hands and feet, born to the same phenotypically normal mother, are reported. The younger of the two sibs also has dominantly inherited tremors (also referred to as essential heredofamilial tremors) as did her biological father. Possible genetic causes to explain the recurrence of the facial and limb malformations in the half sibs with additional central nervous system malformations in the younger sib are discussed.

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Year:  1981        PMID： 7328620      PMCID： PMC1048766          DOI： 10.1136/jmg.18.5.394

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


  5 in total

1.  THE SYNDROMES OF CLEFT LIP, CLEFT PALATE AND LOBSTER-CLAW DEFORMITIES OF HANDS AND FEET.

Authors:  J C WALKER; L CLODIUS
Journal:  Plast Reconstr Surg       Date:  1963-12       Impact factor: 4.730

2.  The EEC syndrome. Report of six patients.

Authors:  H M Pashayan; S Pruzansky; L Solomon
Journal:  Birth Defects Orig Artic Ser       Date:  1974

3.  The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies.

Authors:  M Preus; F C Fraser
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

4.  Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome. Its association with conductive hearing loss.

Authors:  G C Robinson; L S Wildervanck; T P Chiang
Journal:  J Pediatr       Date:  1973-01       Impact factor: 4.406

5.  The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern.

Authors:  C B Brill; L Y Hsu; K Hirschhorn
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438
  5 in total
  2 in total

1.  Dilemmas in counselling: the EEC syndrome.

Authors:  K Tse; I K Temple; M Baraitser
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

2.  Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.

Authors:  J Christodoulou; P N McDougall; L J Sheffield
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318
  2 in total

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