Premium
Autosomal recessive microcephaly with early onset seizures and spasticity
Author(s) -
Silengo M.,
Lerone M.,
Martinelli M.,
Martucciello G.,
Caffarena P. E.,
Jasonni V.,
Romeo G.
Publication year - 1992
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.1399-0004.1992.tb03228.x
Subject(s) - microcephaly , spasticity , medicine , pediatrics , psychomotor retardation , consanguinity , psychomotor learning , pathology , physical medicine and rehabilitation , psychiatry , alternative medicine , cognition
We describe two siblings, a male and a female pair, born of consanguineous parents, affected with a rare genetic form of congenital microcephaly. The clinical syndrome is characterized by early onset myoclonic seizures, spasticity, and profound psychomotor retardation without detectable brain malformations. To date, only two kindreds and one sporadic case with a similar clinical picture have been observed and reported (Tolmie et al. 1987, Bundey & Griffiths 1977). The severity of the neurological features and their perinatal onset differentiate the syndrome from the more common autosomal recessive microcephaly with spasticity/seizures.