Literature DB >> 2918527

Further delineation of the Yunis-Varon syndrome.

R C Hennekam1, C Vermeulen-Meiners.   

Abstract

A boy with intrauterine growth retardation, microcephaly, dysostosis of the skull, hypoplastic facial bones, labiogingival retraction, agenesis of the clavicles, distal aphalangia, and severely hypoplastic thumbs and halluces is described. The features are consistent with the Yunis-Varon syndrome. Review of published reports shows this to be a generalised disorder with variable manifestations in the skeletal, ectodermal, and cardiovascular systems. The consanguinity of the parents of the present case is in agreement with autosomal recessive inheritance.

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Mesh:

Year:  1989        PMID: 2918527      PMCID: PMC1015538          DOI: 10.1136/jmg.26.1.55

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


  5 in total

1.  Cleidocranial dysostosis. A review of 40 new cases.

Authors:  J L Jarvis; T E Keats
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1974-05

2.  Brief clinical report: the syndrome of Yunis and Varón--report of a further case.

Authors:  H E Hughes; M W Partington
Journal:  Am J Med Genet       Date:  1983-03

3.  Syndromes and situations associated with congenital clavicular hypoplasia or agenesis.

Authors:  B D Hall
Journal:  Prog Clin Biol Res       Date:  1982

4.  SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma.

Authors:  D M Parry; J J Mulvihill; S E Tsai; M I Kaiser-Kupfer; J M Cowan
Journal:  Am J Med Genet       Date:  1986-08

5.  Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome.

Authors:  E Yunis; H Varón
Journal:  Am J Dis Child       Date:  1980-07
  5 in total
  4 in total

1.  Yunis Varon syndrome.

Authors:  M L Kulkarni; H N Vani; K Nagendra; T K Mahesh; Anand Kumar; Suja Haneef; Zaheeruddin Mohammed; Preethi M Kulkarni
Journal:  Indian J Pediatr       Date:  2006-04       Impact factor: 1.967

2.  Yunis-Varon syndrome with severe osteodysplasty.

Authors:  C Garrett; A C Berry; R H Simpson; C M Hall
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

3.  Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

Authors:  Philippe M Campeau; Guy M Lenk; James T Lu; Yangjin Bae; Lindsay Burrage; Peter Turnpenny; Jorge Román Corona-Rivera; Lucia Morandi; Marina Mora; Heiko Reutter; Anneke T Vulto-van Silfhout; Laurence Faivre; Eric Haan; Richard A Gibbs; Miriam H Meisler; Brendan H Lee
Journal:  Am J Hum Genet       Date:  2013-04-25       Impact factor: 11.025

Review 4.  Congenital heart malformation in Yunis-Varón syndrome.

Authors:  L C Adès; L L Morris; M Richardson; C Pearson; E A Haan
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

  4 in total

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