Biomaterial Database

Hirschsprung's disease and congenital deafness. Familial assocation. 1977

A G Weinberg, and G Currarino, and A M Besserman

A family is described showing deafness in three consecutive generations. Hirshchsprung's disease was present in at least two of the affected patients and a history of bowel dysfunction was present in the third. The assocation of the two disorders in this family may be due to a single autosomal dominant gene and in this regard differs from previously reported isolated patients with Hirschsprung's disease and deafness.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008531	Megacolon	Dilatation of the COLON, often to alarming dimensions. There are various types of megacolon including congenital megacolon in HIRSCHSPRUNG DISEASE, idiopathic megacolon in CONSTIPATION, and TOXIC MEGACOLON.	Megacolons
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003638	Deafness	A general term for the complete loss of the ability to hear from both ears.	Deafness Permanent,Hearing Loss Permanent,Prelingual Deafness,Deaf Mutism,Deaf-Mutism,Deafness, Acquired,Hearing Loss, Complete,Hearing Loss, Extreme,Acquired Deafness,Complete Hearing Loss,Deafness, Prelingual,Extreme Hearing Loss,Permanent, Deafness,Permanent, Hearing Loss,Permanents, Deafness
D005260	Female		Females
D005799	Genes, Dominant	Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.	Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults

Related Publications

A G Weinberg, and G Currarino, and A M Besserman

Congenital deafness and Hirschsprung's disease.

March 1973, The New England journal of medicine,

A G Weinberg, and G Currarino, and A M Besserman

Hirschsprung's disease and congenital deafness.

December 1973, Journal of medical genetics,

A G Weinberg, and G Currarino, and A M Besserman

Letter: Hirschsprung's disease and congenital deafness.

March 1975, Journal of medical genetics,

A G Weinberg, and G Currarino, and A M Besserman

Hirschsprung's disease and imperforate anus in a new born: unusual assocation.

January 2006, Ethiopian medical journal,

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Discordant Hirschsprung's disease in monozygotic twins with concordant congenital deafness.

June 2000, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie,

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Ichthyosis, deafness, and Hirschsprung's disease.

March 1989, Pediatric dermatology,

A G Weinberg, and G Currarino, and A M Besserman

[Familial goiter and congenital deafness].

May 1965, Revista de la Sociedad Peruana de Endocrinologia,

A G Weinberg, and G Currarino, and A M Besserman

FAMILIAL GOITER AND CONGENITAL NERVE DEAFNESS.

August 1965, The Journal of clinical endocrinology and metabolism,

A G Weinberg, and G Currarino, and A M Besserman

[Deafness and familial congenital auricular fistulas].

January 1972, Pediatrie,