Literature DB >> 2319578

Yunis-Varon syndrome with severe osteodysplasty.

C Garrett1, A C Berry, R H Simpson, C M Hall.   

Abstract

We report two male sibs and two female sibs from separate families, both with normal parents, who had a lethal condition with features of the Yunis-Varon syndrome and radiological signs of severe osteodysplasty. Autosomal recessive inheritance is likely in both families. The additional features described represent further delineation of the phenotype of the Yunis-Varon syndrome.

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Mesh：

Year:  1990        PMID： 2319578      PMCID： PMC1016932          DOI： 10.1136/jmg.27.2.114

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


  11 in total

1.  Melnick-Needles syndrome in males.

Authors:  M Krajewska-Walasek; J Winkielman; R J Gorlin
Journal:  Am J Med Genet       Date:  1987-05

2.  Precocious type of osteodysplasia. A new autosomal recessive form.

Authors:  K Kozlowski; V Mayne; D M Danks
Journal:  Acta Radiol Diagn (Stockh)       Date:  1973-03

3.  [Osteodysplasty (Melnick-Needles syndrome)].

Authors:  P Maroteaux; L Chouraki; F Coste
Journal:  Presse Med       Date:  1968-03-27       Impact factor: 1.228

4.  Further delineation of the Yunis-Varon syndrome.

Authors:  R C Hennekam; C Vermeulen-Meiners
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

5.  An undiagnosed bone dysplasia. A 2 family study of 4 generations and 3 generations.

Authors:  J C Melnick; C F Needles
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1966-05

6.  Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome).

Authors:  P von Oeyen; L B Holmes; R L Trelstad; N T Griscom
Journal:  Am J Med Genet       Date:  1982-12

7.  [Osteodysplasia or the Melnick-Needles syndrome; (apropos of a new case)].

Authors:  B Deleporte; J P Buissart; P Vankemmel; J Rémy; P Maroteaux; F Galley; J Savary; J L Fournier; G Fontaine
Journal:  J Genet Hum       Date:  1985-01

8.  Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome.

Authors:  A E Donnenfeld; K A Conard; N S Roberts; P F Borns; E H Zackai
Journal:  Am J Med Genet       Date:  1987-05

9.  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

10.  Melnick-Needles syndrome.

Authors:  L D Perry; W C Edwards; R T Bramson
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1978 Jul-Aug       Impact factor: 1.402
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  3 in total

1.  Yunis-Varón syndrome caused by biallelic VAC14 mutations.

Authors:  Matthew A Lines; Yoko Ito; Kristin D Kernohan; Wendy Mears; Julie Hurteau-Miller; Sunita Venkateswaran; Leanne Ward; Karine Khatchadourian; Jeff McClintock; Priya Bhola; Philippe M Campeau; Kym M Boycott; Jean Michaud; André Bp van Kuilenburg; Sacha Ferdinandusse; David A Dyment
Journal:  Eur J Hum Genet       Date:  2017-06-21       Impact factor: 4.246

2.  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

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
  3 in total

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