Glossary in Congenital Malformations

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General:

Syndromes and Sequences:  Head

#WAGR syndrome: Wilms’ tumor, aniridia, genitourinary-tract malformation, and mental retardation.

#Waaler-Aarskog syndrome: Questionable autosomal dominant transmission with variable penetration. It includes hydrocephalus, imperforated anus, congenital heart disease, tracheo-esophageal fistula, vertebral and limb abnormalities.

#Walker-Warburg Syndrome: Walker-Warburg syndrome is a form of cerebro-ocular dysplasia (muscle-eye-brain syndrome) characterized by hydrocephalus, agyria (a migration disorder), retinal dysplasia or detatchment, and encephalocele (HARD+E). There are also defects of the anterior chamber of the eyes.

·         CNS malformations: The brain abnormalities include type II lissencephaly, hydrocephalus, malformed cerebellar vermis, marked subpial gliosis, and abnormal cortical vascular architecture. Affected infants are very hypotonic from birth with microcephaly, severe mental retardation, and a variety of ocular abnormalities are the most obvious clinical abnormalities. Usually lethal within the first 4 months of age.

#Wildervanck syndrome (oculo-acoustic-cervical syndrome): Congenital perceptive deafness (usually severe and sensataional in sensorineural in type), Klippel-Feil anomaly and Duane’s syndrome. It is largely limited to females and is probably polygenetic in inheritance. Prominent mirror movements have been described in a case and suggest a degree of anomalous corticospinal axonal guidance (abnormal axonal guidance syndrome); cerebellar and brain stem atrophy have been demonstrated by MRI in this case [Huges P et al., 1991]. See also anormalous axonal connection (guidance) syndromes.

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