Literature DB >> 7201743

Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family.

J M Opitz, E G Kaveggia, W N Adkins, E F Gilbert, C Viseskul, J C Pettersen, B Blumberg.   

Abstract

The brain findings at autopsy of an 18-year-old male with FG syndrome were megalencephaly, midline fusion of mammillary bodies, heterotopia of neuroglial tissue in the 7th and 8th nerves, and ependymal cell replacement by neuroglial tissue as well as a diffuse defect of neuronal cell migration evidenced from pachygyria of many gyri, dysgenesis of cerebral cortex, and heterotopia of neurons in the white matter of the centrum ovale. A cousin, studied at 20 weeks' gestational age, had gross turridolichocephaly with enlarged cranium and also multiple minor external and internal anomalies. An affected brother of this fetus died at 17 months of complications of a congenital heart defect and CNS dysfunction. X-linked inheritance of the FG syndrome is confirmed.

Entities:  

Mesh:

Year:  1982        PMID: 7201743     DOI: 10.1002/ajmg.1320120205

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


  5 in total

1.  Necropsy findings in a child with FG syndrome.

Authors:  E M Thompson; B N Harding; B D Lake; S C Smith
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

2.  FG syndrome.

Authors:  E Thompson; M Baraitser
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

3.  Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome.

Authors:  J Burn; N Martin
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

4.  Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.

Authors:  John M Graham; Jeannie Visootsak; Elisabeth Dykens; Lillie Huddleston; Robin D Clark; Kenneth L Jones; John B Moeschler; John M Opitz; Jackie Morford; Richard Simensen; R Curtis Rogers; Charles E Schwartz; Michael J Friez; Roger E Stevenson
Journal:  Am J Med Genet A       Date:  2008-12-01       Impact factor: 2.802

5.  A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.

Authors:  Q H Qazi; D Markouizos; C Rao; T Sheikh; E Beller; R Kula
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.