BMJ1 年
Incidence, aetiology and neurodisability associated with severe microcephaly: a national ...
Objective To determine the incidence, causes and neurodevelopmental impact of severe microcephaly (head circumference <–3SD) up to age 2 years. Design Binational active paediatric surveillance study ...
jmg.bmj4 个月
Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation ...
post.tau.ac.il We describe seven patients from six non-consanguineous Sephardi Jewish families with a previously undescribed syndrome of profound mental retardation, progressive microcephaly, and ...
BMJ4 个月
Fetal brain disruption sequence in a newborn infant with a history of cordocentesis at 21 ...
hupa.insalvol.es The case is reported of a full term infant with severe microcephaly, overlapping sutures, prominence of the occipital bone, and scalp rugae. No other associated malformations were ...
BMJ4 年
Population-based surveillance of severe microcephaly and congenital Zika syndrome in Canada
sickkids.ca Purpose To estimate the minimum incidence of congenital Zika syndrome (CZS) and severe microcephaly in Canada and describe key clinical, epidemiological, aetiological and outcome features ...
jmg.bmj1 年
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral ...
Methods and results This report describes an autosomal recessive form of spastic tetraplegic cerebral palsy with profound intellectual disability, microcephaly, epilepsy and white matter loss in a ...