Glossary in Congenital Malformations

NeuroLearn NeuroHelp Malformations @ General Syndromes

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z 

General:

#Blake's pouch: cyst of the cisterna magna.

#Buphthalmos: Abnormal enlargement of the eyes.

Syndromes and Sequences:  Head

#Bannayan-Zonana and Ruvalcaba-Myhre-Smith syndrome: This is an ectomesodermal syndrome. Eye abnormalities including glaucoma, macrocephaly, cerebral and cerebellar hemihypertrophy, arteriovenous malformation. There are also port-wine hemangioma or vascular nevi of skin, varicose veins, soft tissue and bony hypertrophy. There is also hemangioma in the brain and bone. Aggressive lipomas are also seen.

#Basal cell nevus syndrome: This is an ectomesodermal syndrome. Basal cell nevi, skeletal anomalies and bone abnormalities including basal cell carcinoma, odontogenic keratocysts of the jaws, fetal rhabdomyoma and bifid ribs. CNS abnormalities include agenesis of corpus callosum, high incidence of

#Bickers-Adams syndrome: This is X-linked recessive hydrocephalus with aqueductal stenosis characterized by a narrowed aqueduct with and intact ependymal lining and sometimes forking. Clinical features include mental retardation and enlarged cerebral ventrils often associated with spastic paraparesis and adductor thumbs.

#Bilateral perisylvian syndrome (focal Rolandic macrogyria): This is probably a localized cortical migration disorder. Affected patients have characteristic bilateral central Rolandic and sylvian macrogyria with thickened cortex that may be more or less symmetrical. Patients often have intractable complex partial seizures, mild hemiparesis, and intellectual deficits.

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