Familial hiatal hernia in a large five generation family confirming true autosomal dominant inheritance.
BACKGROUND
Familial hiatal hernia has only rarely been documented.


OBJECTIVE
To describe the pattern of inheritance of familial hiatal hernia within an affected family.


METHODS
Thirty eight members of a family pedigree across five generations.


METHODS
All family members were interviewed and investigated by barium meal for evidence of a hiatal hernia.


RESULTS
Twenty three of 38 family members had radiological evidence of a hiatal hernia. No individual with a hiatal hernia was born to unaffected parents. In one case direct male to male transmission was shown.


CONCLUSIONS
Familial inheritance of hiatal hernia does occur. Evidence of direct male to male transmission points to an autosomal dominant mode of inheritance.
Carré
I J
IJ
Department of Child Health, The Queen's University of Belfast, Northern Ireland, UK.
Johnston
B T
BT
Thomas
P S
PS
Morrison
P J
PJ
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006551:Hernia, Hiatal / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011859:Radiography; D017678:Sex Distribution