Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0027960 (
mole
)
21,279
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
This report deals with a family in which the maternal grandmother, the mother, and all three male children have port-wine
nevi
and mega cisterna magna. Two of the three male children have, in addition, congenital communicating hydrocephalus associated with agenesis of the posterior cerebellar vermis. This case of familial communicating hydrocephalus, posterior
cerebellar vermis agenesis
, port-wine
nevus
, and mega cisterna magna represents a new neurocutaneous syndrome, possibly transmitted as an autosomal dominant.
...
PMID:Familial communicating hydrocephalus, posterior cerebellar agenesis, mega cisterna magna, and port-wine nevi. Report on five members of one family. 50 30
