Literature DB >> 16816498

Yunis Varon syndrome.

M L Kulkarni1, H N Vani, K Nagendra, T K Mahesh, Anand Kumar, Suja Haneef, Zaheeruddin Mohammed, Preethi M Kulkarni.   

Abstract

In this communication is reported a neonate with Yunis Varon syndrome, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, prominent eyes, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction. Bilateral hypoplasia of thumbs, absent great toes, short phalanges were other features. Additional features in this case included median pseudocleft unreported earlier and C.T. findings of underdeveloped gyri, ischemic changes in temperoparietal region and bilateral lacunar infarcts in middle cerebral artery territory.

Entities:  

Mesh:

Year:  2006        PMID: 16816498     DOI: 10.1007/bf02825832

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  13 in total

1.  Yunis-Varon syndrome.

Authors:  Sameer Bhatia; R G Holla
Journal:  Indian Pediatr       Date:  2005-04       Impact factor: 1.411

2.  Yunis-Varon syndrome: the first case of German origin.

Authors:  H Rabe; T Brune; R Rossi; V Steinhorst; G Jorch; J Horst; B Wittwer
Journal:  Clin Dysmorphol       Date:  1996-07       Impact factor: 0.816

3.  Generalized lysosomal storage in Yunis Varón syndrome.

Authors:  F Dworzak; M Mora; C Borroni; F Cornelio; F Blasevich; A Cappellini; F Tagliavini; B Bertagnolio
Journal:  Neuromuscul Disord       Date:  1995-09       Impact factor: 4.296

4.  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

5.  Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis-Varon syndrome.

Authors:  J Christie; S Sacks; D Decorato; N V Bergasa
Journal:  J Clin Gastroenterol       Date:  1999-09       Impact factor: 3.062

6.  Yunis-Varon syndrome: evidence for a lysosomal storage disease.

Authors:  E Walch; M Schmidt; R E Brenner; D Emons; C Dame; B Pontz; O D Wiestler; P Bartmann
Journal:  Am J Med Genet       Date:  2000-11-13

Review 7.  Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review.

Authors:  C E Oyer; N G Tatevosyants; S C Cortez; A Hornstein; M Wallach
Journal:  Pediatr Dev Pathol       Date:  1998 Jul-Aug

8.  Hypodontia, impacted permanent teeth, spinal defects, and cardiomegaly in a previously diagnosed case of the Yunis-Varon syndrome.

Authors:  G L Lapeer; S L Fransman
Journal:  Oral Surg Oral Med Oral Pathol       Date:  1992-04

Review 9.  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

10.  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
View more
  2 in total

1.  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

2.  Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

Authors:  Stéphanie Baulac; Guy M Lenk; Béatrice Dufresnois; Bouchra Ouled Amar Bencheikh; Philippe Couarch; Julie Renard; Peter A Larson; Cole J Ferguson; Eric Noé; Karine Poirier; Christine Hubans; Stéphanie Ferreira; Renzo Guerrini; Reda Ouazzani; Khalid Hamid El Hachimi; Miriam H Meisler; Eric Leguern
Journal:  Neurology       Date:  2014-03-05       Impact factor: 9.910

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.