Familial white matter hypoplasia, agenesis of the corpus callosum, mental retardation and growth deficiency: a new distinctive syndrome

We have observed in two different families two pairs of male siblings born from normal, non-consanguineous parents having the same syndrome, characterized by severe cerebral white matter hypoplasia, agenesis or extreme hypoplasia of the corpus callosum, mental retardation, failure to thrive and mino...

Full description

Saved in:

Bibliographic Details
Published in:	Neuropediatrics Vol. 24; no. 2; p. 77
Main Authors:	Curatolo, P, Cilio, M R, Del Giudice, E, Romano, A, Gaggero, R, Pessagno, A
Format:	Journal Article
Language:	English
Published:	Germany 01-04-1993
Subjects:	Abnormalities, Multiple - diagnosis Agenesis of Corpus Callosum Brain - abnormalities Brain - diagnostic imaging Child Child, Preschool Chromosome Aberrations - diagnosis Chromosome Aberrations - genetics Chromosome Disorders Corpus Callosum - diagnostic imaging Failure to Thrive - diagnosis Failure to Thrive - genetics Family Female Growth Disorders - diagnosis Growth Disorders - genetics Humans Intellectual Disability - diagnosis Intellectual Disability - genetics Magnetic Resonance Imaging Neurologic Examination Radiography Syndrome
Online Access:	Get more information
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	We have observed in two different families two pairs of male siblings born from normal, non-consanguineous parents having the same syndrome, characterized by severe cerebral white matter hypoplasia, agenesis or extreme hypoplasia of the corpus callosum, mental retardation, failure to thrive and minor midline facial abnormalities. This seems to be a previously unreported genetic syndrome.
ISSN:	0174-304X
DOI:	10.1055/s-2008-1071518