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:

Syndromes and Sequences:  Head

#Kallman syndrome:

·         Neuropathology: Anosmia due to absence of olfactory bulb stalks and gyri, hypogonadism (eunuchoidism) and, often, mild mental retardation.

·         Genetics: This syndrome is generally heterogenous but usually transmitted as an X-linked recessive trait, and the gene (KALIG-1, an adhesion molecule) has been localized to chromosome Xp22.3.

·         Mechanism: The hypogonadism is due to migration defects involving the olfactory axons and gonadotrophin releasing hormone-secreting neurons. These neurons originate from the olfactory placode and normally migrate through the ethmoid to the olfactory bulbs. These cells do not develop if they are not reached by axons (as in olfactory bulb and tract agenesis).

·         Clinical: Neurological defects includ abnormalities include congenital anosmia, mirror movements, cerebellar signs, hearing loss, abnormal eye movements and mild mental retardation.

#Klippel-Feil syndrome.

#Klippel-Trenauny-Weber syndrome: this is an ectomesodermal syndrome. Eye abnormalities including glaucoma, macrocephaly, cerebral and cerebellar hemihypertrophy, arteriovenous malformation of the brain. Skin lesions include port-wine hemangioma or vascular nevi of skin, varicose veins, soft tissue and bony hypertrophy.

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