Biomaterial Database

Congenital hypothyroidism, spiky hair, and cleft palate. 1989

J S Bamforth, and I A Hughes, and J H Lazarus, and C M Weaver, and P S Harper

Institute of Medical Genetics, University of Wales, College of Medicine, Heath Park, Cardiff.

Two brothers are described with athyroidal hypothyroidism, spiky hair, choanal atresia, cleft palate, and bifid epiglottis. Polyhydramnios was present in the third trimester of each pregnancy. These abnormalities appear to represent a new syndrome.

UI	MeSH Term	Description	Entries
D007037	Hypothyroidism	A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA. It may be primary or secondary due to other pituitary disease, or hypothalamic dysfunction.	Central Hypothyroidism,Primary Hypothyroidism,Secondary Hypothyroidism,TSH Deficiency,Thyroid-Stimulating Hormone Deficiency,Central Hypothyroidisms,Deficiency, TSH,Deficiency, Thyroid-Stimulating Hormone,Hormone Deficiency, Thyroid-Stimulating,Hypothyroidism, Central,Hypothyroidism, Primary,Hypothyroidism, Secondary,Hypothyroidisms,Primary Hypothyroidisms,Secondary Hypothyroidisms,TSH Deficiencies,Thyroid Stimulating Hormone Deficiency,Thyroid-Stimulating Hormone Deficiencies
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D008854	Microscopy, Electron	Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.	Electron Microscopy
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D002972	Cleft Palate	Congenital fissure of the soft and/or hard palate, due to faulty fusion.	Cleft Palate, Isolated,Cleft Palates,Palate, Cleft,Palates, Cleft
D006197	Hair	A filament-like structure consisting of a shaft which projects to the surface of the SKIN from a root which is softer than the shaft and lodges in the cavity of a HAIR FOLLICLE. It is found on most surfaces of the body.	Fetal Hair,Hair, Fetal,Lanugo,Fetal Hairs,Hairs,Hairs, Fetal
D006201	Hair Diseases	Diseases affecting the orderly growth and persistence of hair.	Hair Disease
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013960	Thyroid Function Tests	Blood tests used to evaluate the functioning of the thyroid gland.	Jostel's TSH Index,Jostel's Thyrotropin Index,Protein-Bound Iodine Test,SPINA-GD,SPINA-GT,Secretory Capacity of the Thyroid Gland,Sum Activity of Peripheral Deiodinases,Thyrotroph Thyroid Hormone Sensitivity Index,Thyroid Gland Function Tests,Function Test, Thyroid,Iodine Test, Protein-Bound,Jostel TSH Index,Jostel Thyrotropin Index,Jostel's TSH Indices,Jostels TSH Index,Jostels Thyrotropin Index,Protein Bound Iodine Test,Protein-Bound Iodine Tests,TSH Index, Jostel's,Test, Protein-Bound Iodine,Test, Thyroid Function,Thyroid Function Test,Thyrotropin Index, Jostel's