Biomaterial Database

Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs. 1989

J Hamilton, and J N Bodurtha

Department of Human Genetics, Medical College of Virginia, Richmond.

We report two infants with congenital central hypoventilation syndrome and Hirschsprung's disease who have the same father but different mothers. The genetic implications of these cases are discussed.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D010334	Paternity	Establishing the father relationship of a man and a child.	Paternities
D003125	Colostomy	The surgical construction of an opening between the colon and the surface of the body.	Colostomies
D005190	Family	A social group consisting of parents or parent substitutes and children.	Family Life Cycles,Family Members,Family Life Cycle,Family Research,Filiation,Kinship Networks,Relatives,Families,Family Member,Kinship Network,Life Cycle, Family,Life Cycles, Family,Network, Kinship,Networks, Kinship,Research, Family
D005260	Female		Females
D006627	Hirschsprung Disease	Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.	Aganglionosis, Colonic,Colonic Aganglionosis,Megacolon, Congenital,Aganglionic Megacolon,Aganglionosis, Rectosigmoid Colon,Aganglionosis, Total Colonic,Congenital Intestinal Aganglionosis,Congenital Megacolon,Hirschsprung's Disease,Megacolon, Aganglionic,Rectosigmoid Aganglionosis,Total Colonic Aganglionosis,Aganglionosis, Rectosigmoid,Disease, Hirschsprung,Disease, Hirschsprung's,Hirschsprungs Disease,Rectosigmoid Colon Aganglionosis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012891	Sleep Apnea Syndromes	Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.	Apnea, Sleep,Hypersomnia with Periodic Respiration,Sleep-Disordered Breathing,Mixed Central and Obstructive Sleep Apnea,Sleep Apnea, Mixed,Sleep Apnea, Mixed Central and Obstructive,Sleep Hypopnea,Apnea Syndrome, Sleep,Apnea Syndromes, Sleep,Apneas, Sleep,Breathing, Sleep-Disordered,Hypopnea, Sleep,Hypopneas, Sleep,Mixed Sleep Apnea,Mixed Sleep Apneas,Sleep Apnea,Sleep Apnea Syndrome,Sleep Apneas,Sleep Apneas, Mixed,Sleep Disordered Breathing,Sleep Hypopneas
D014139	Tracheostomy	Surgical formation of an opening into the trachea through the neck, or the opening so created.	Tracheostomies