Literature DB >> 17613106

A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism.

Gilberto De Lima Garcias1, Maria Da Graça Martino Roth.   

Abstract

This article describes the case of four brothers, born of a consanguineous couple, that present a severe mental retardation syndrome, coarse facial characteristics, hirsutism, quadrupedal gait (pithecoid walk), small stature, absence of speech, strabismus as well as having small hands and feet. This case seems to be a behavioral syndrome, which was inherited in an autosomal recessive manner not previously recorded.

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Year:  2007        PMID: 17613106     DOI: 10.1080/00207450600910721

Source DB:  PubMed          Journal:  Int J Neurosci        ISSN: 0020-7454            Impact factor:   2.292


  3 in total

1.  Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion.

Authors:  Tayfun Ozcelik; Nurten Akarsu; Elif Uz; Safak Caglayan; Suleyman Gulsuner; Onur Emre Onat; Meliha Tan; Uner Tan
Journal:  Proc Natl Acad Sci U S A       Date:  2008-06-10       Impact factor: 11.205

2.  Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.

Authors:  Tayfun Ozcelik; Nurten Akarsu; Elif Uz; Safak Caglayan; Suleyman Gulsuner; Onur Emre Onat; Meliha Tan; Uner Tan
Journal:  Proc Natl Acad Sci U S A       Date:  2008-03-07       Impact factor: 11.205

3.  Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect.

Authors:  Anastasia P Grigorenko; Maria S Protasova; Alexandra A Lisenkova; Denis A Reshetov; Tatiana V Andreeva; Gilberto De Lima Garcias; Maria Da Graça Martino Roth; Andreas Papassotiropoulos; Evgeny I Rogaev
Journal:  Cells       Date:  2022-01-25       Impact factor: 6.600

  3 in total

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