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Autosomal recessive congenital cerebellar hypoplasia
Author(s) -
Wichman Alison,
Frank L. Matthew,
Kelly Thaddeus E.
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb02279.x
Subject(s) - cerebellar hypoplasia (non human) , hypoplasia , cerebellum , autosomal recessive inheritance , cerebellar vermis , sibling , cerebellar hemisphere , medicine , cisterna magna , anatomy , pediatrics , biology , pathology , genetics , psychology , developmental psychology , cerebrospinal fluid , gene
We report three sibling pairs with congenital cerebellar hypoplasia. All six children presented in the first years of life with delays in motor and language development. All patients showed cerebellar and/or vermal dysfunction and, on formal psychometric testing, cognitive abilities ranged from normal to moderately retarded. Abnormalities on CT scan ranged from prominent valleculla to an enlarged cisterna magna with hypoplasia of the cerebellar hemispheres and vermis. The pedigrees are consistent with autosomal recessive inheritance.