Literature DB >> 7200726

Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission.

W K Lee, A W Root, N Fenske.   

Abstract

A mother and son with bilateral branchial sinuses, intrauterine and postnatal growth retardation, unusual facial appearance, and premature aging in the mother are reported. No other members of the family are similarly affected. No hormonal or systemic cause of growth retardation was identified. Chromosomal studies with G-banding were normal. It is suggested that this syndrome is a dominant trait, the mother being the initial mutant.

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Year:  1982        PMID: 7200726     DOI: 10.1002/ajmg.1320110311

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


  6 in total

1.  Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis.

Authors:  D Mazzone; A Milana; C Carpinato
Journal:  Eur J Pediatr       Date:  1992-04       Impact factor: 3.183

2.  Recurrence of orbital cysts in the branchio-oculo-facial syndrome.

Authors:  D W Fielding; A E Fryer
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

3.  A Case of Branchio-oculo-facial Syndrome.

Authors:  Min Young Park; You Chan Kim
Journal:  Ann Dermatol       Date:  2009-08-31       Impact factor: 1.444

4.  The oculocerebrocutaneous (Delleman) syndrome.

Authors:  L I al-Gazali; D Donnai; S A Berry; B Say; R F Mueller
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

5.  Branchio-oculo-facial syndrome.

Authors:  M L Kulkarni; Shilpa Deshmukh; Ananda Kumar; Preethi M Kulkarni
Journal:  Indian J Pediatr       Date:  2005-08       Impact factor: 1.967

Review 6.  Concepts for the treatment of adolescent patients with missing permanent teeth.

Authors:  M Behr; O Driemel; V Mertins; T Gerlach; C Kolbeck; N Rohr; T E Reichert; G Handel
Journal:  Oral Maxillofac Surg       Date:  2008-07
  6 in total

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