Familial Congenital Spastic Diplegia

Microcephaly: Genetic counselling and antenatal diagnosis after the birth of an affected child

“…Penrose [ 19721 suggested that cases of autosomal recessive microcephaly had a characteristic phenotype consisting of a receding forehead, low vertex, large ears, short stature, and a furtive gait; he emphasized that spasticity and seizures were uncommon. In contrast, we and others [Powdermaker, 1930;Brandon et al, 1959;Adler, 1961 ;Roboz, 19731 have observed autosomal recessive microcephaly with spasticity and seizures although affected sibs are not alway s concordant for these features. Patients with autosomal dominant microcephaly are usually free from neurological signs, and the OFC is rarely less than -4 SD [Haslam and Smith, 19791; an important point for genetic counselling is that affected individuals may be only mildly retarded or intellectually normal [Leung, 1985;Crowe and Dickerman, 19861. Neuroradiological investigations may give useful information in cases in which the underlying cause is thought to be a destructive brain lesion resulting from hypoxicischaemic damage or vascular disruption due to in utero death of a co-twin [Hughes and Miskin, 19861.…”