Facial dysmorphism: a marker of autosomal dominant cranial diabetes insipidus.
We report a family with autosomal dominant cranial diabetes insipidus in which a characteristic facial appearance of hypertelorism, broad and prominent nasal bridge, short nose, and long philtrum is seen in affected members.
Department of Clinical Genetics, Aberdeen Royal Infirmary.
R B
RB
Laing
J C
JC
Dean
D W
DW
Pearson
A W
AW
Johnston
D000293:Adolescent; D000328:Adult; D003919:Diabetes Insipidus / Q000235:genetics* / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D006972:Hypertelorism; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities*
D005819:Genetic Markers