Glossary in Congenital Malformations

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General:

#Ocular miswiring in albinism: It involves excess optic fibers from the temporal retina crossing at the optic chiasm instead of projecting to the ipsilateral hemisphere. Such misrouting have catastrophic effects on the organization of the geniculate nucleus and subsquently the visual cortex. Melanin pigment in the retina is probably important for normal development of optic projections during embryogenesis. See also anormalous axonal connection (guidance) syndromes.

#Odine curse (congenital failure of autonomic control, congenital hypoventilation syndrome): Genetics: sporadic. Patients have hypoventilation due to failure of autonomic control of ventilation occasionally associated with total colonic aganglionosis. Odine curse is frequently fatal.

Syndromes and Sequences:  Head

#Norman-Roberts Syndrome: Probably autosomal recessive. This is a migration disorder characterized by extreme microcephaly, agyric brain with abnormal cortical architecture, subependymal heterotopic gray matter, absence of external granular layer of the cerebellum, irregular distribution of the Purkinje cells and striking deficiency of the internal granular layer. The brain stem and cerebellum are poorly myelinated. The basal ganglia and thalami are relatively normal. Clinically: extreme microcephaly with bitemporal hallowing, wide-set eyes, micrognathia, low sloped forehead, broad flattened nasal bridge, and normal ears and nose. Seizures began at birth and have continuous myoclonic jerks and intermittent convulsions that are poorly controlled by anticonvulsants.

NeuroLearn NeuroHelp Malformations General Syndromes For Comment: KarMing-Fung@ouhsc.edu