Literature DB >> 1609830

Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents.

J J van den Ende1, Y van Bever, E S Rodini, A Richieri-Costa.   

Abstract

We report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed "new" autosomal recessive syndrome.

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Mesh：

Year:  1992        PMID： 1609830     DOI： 10.1002/ajmg.1320420411

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


  5 in total

1.  Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome.

Authors:  M F Bedeschi; L Colombo; F Mari; K Hofmann; A Rauch; B Gentilin; A Renieri; D Clerici
Journal:  Mol Syndromol       Date:  2011-05-18

2.  A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation.

Authors:  A Gupta; C M Hall; Y F Ransley; V A Murday
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

3.  Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.

Authors:  Natascia Anastasio; Tawfeg Ben-Omran; Ahmad Teebi; Kevin C H Ha; Emilie Lalonde; Rehab Ali; Mariam Almureikhi; Vazken M Der Kaloustian; Junhui Liu; David S Rosenblatt; Jacek Majewski; Loydie A Jerome-Majewska
Journal:  Am J Hum Genet       Date:  2010-10-08       Impact factor: 11.025

4.  Scavenger receptor class F member 2 (SCARF2) as a novel therapeutic target in glioblastoma.

Authors:  Chaeyeong Kim; Gyeyeong Kong; Hyunji Lee; Quangdon Tran; Thuy-Trang T Vo; So Hee Kwon; Jisoo Park; Seon-Hwan Kim; Jongsun Park
Journal:  Toxicol Res       Date:  2022-02-25

5.  Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.

Authors:  Mohammad M Al-Qattan; Doaa F Andejani; Nadia A Sakati; Khushnooda Ramzan; Faiqa Imtiaz
Journal:  BMC Med Genet       Date:  2018-01-30       Impact factor: 2.103
  5 in total

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