Abstract:
:Autosomal recessive microcephaly has long been recognized in association with normal early motor development and mild to severe mental retardation. We report three sibling pairs with microcephaly and severe neurological impairment. These cases and other sibling pairs reported in the literature illustrate that microcephaly with spasticity and severe mental retardation may also have autosomal recessive inheritance. Furthermore this severely affected group of patients forms a significant proportion of cases of genetic microcephaly. We looked for specific morphological features to identify these forms of genetic microcephaly for genetic counselling, but failed to find characteristic abnormalities among our group of patients.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Scheffer IE,Baraitser M,Wilson J,Godfrey C,Brett EMdoi
10.1055/s-2008-1071313subject
Has Abstractpub_date
1992-02-01 00:00:00pages
53-6issue
1eissn
0174-304Xissn
1439-1899journal_volume
23pub_type
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