X linked recessive inheritance of agenesis of the corpus callosum.

X linked recessive inheritance of agenesis of the corpus callosum.

A 2-year-old boy with psychomotor retardation, congenital unilateral ptosis, bilateral adducted thumbs, weakness of upper limbs, and Hirschsprung's disease (aganglionosis), with complete agenesis of the corpus callosum and hypoplasia of the inferior vermis and cerebellum is reported. His 24-year-old maternal uncle, with severe psychomotor retardation but none of the other physical problems, als...

Neurodevelopmental Outcome of Patients With Agenesis of Corpus Callosum

Background: Agenesis of Corpus Callosum (ACC) is a type of brain dysgenesis with various clinical manifestations. Objectives: This study aimed to investigate the clinical and neurodevelopmental outcomes of patients with ACC. Materials & Methods: In this cross-sectional study, the clinical and neurodevelopmental conditions of 62 patients with complete ACC referred to subspecialty clinics of pe...

Agenesis of the Corpus Callosum

Agenesis of the Corpus Callosum

COMPLETE or partial agenesis of the corpus callosum is uncommon especially in adults; the incidence amongst patients in institutions where numerous air encephalograms are performed is 3% (Carpenter and Drukemiller, 1953). Reil (1812) published the first report of a case, describing the necropsy findings in a 30 year old woman of low mentality; further cases discovered at necropsy were subsequen...

Agenesis of the corpus callosum.

COMPLETE or partial agenesis of the corpus callosum is uncommon especially in adults; the incidence amongst patients in institutions where numerous air encephalograms are performed is 3% (Carpenter and Drukemiller, 1953). Reil (1812) published the first report of a case, describing the necropsy findings in a 30 year old woman of low mentality; further cases discovered at necropsy were subsequen...