Hypohidrotic ectodermal dysplasia with multiple associated anomalies. 1971

R L Summitt, and R L Hiatt

This report concerns an apparently sporadic case of hypohidrotic ectodermal dysplasia with associated congenital anomalies.

UI MeSH Term Description Entries
D007021 Hypospadias A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA. Hypospadia
D007039 Hypotrichosis Presence of less than the normal amount of hair. (Dorland, 27th ed) Hypotrichoses
D007765 Lacrimal Apparatus The tear-forming and tear-conducting system which includes the lacrimal glands, eyelid margins, conjunctival sac, and the tear drainage system. Lacrimal Gland,Nasolacrimal Apparatus,Conjunctival Sacs,Lacrimal Ducts,Lacrimal Punctum,Lateral Canthus,Medial Canthus,Apparatus, Lacrimal,Apparatus, Nasolacrimal,Canthus, Lateral,Canthus, Medial,Conjunctival Sac,Duct, Lacrimal,Gland, Lacrimal,Lacrimal Duct,Lacrimal Glands,Lacrimal Punctums,Punctum, Lacrimal,Sac, Conjunctival
D008297 Male Males
D001827 Body Height The distance from the sole to the crown of the head with body standing on a flat surface and fully extended. Body Heights,Height, Body,Heights, Body
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002971 Cleft Lip Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. Harelip,Cleft Lips,Harelips,Lip, Cleft,Lips, Cleft
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
D003318 Corneal Opacity Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque. Leukoma,Corneal Opacities,Leukomas,Opacities, Corneal,Opacity, Corneal
D003743 Dental Enamel A hard thin translucent layer of calcified substance which envelops and protects the dentin of the crown of the tooth. It is the hardest substance in the body and is almost entirely composed of calcium salts. Under the microscope, it is composed of thin rods (enamel prisms) held together by cementing substance, and surrounded by an enamel sheath. (From Jablonski, Dictionary of Dentistry, 1992, p286) Enamel,Enamel Cuticle,Dental Enamels,Enamel, Dental,Enamels, Dental,Cuticle, Enamel,Cuticles, Enamel,Enamel Cuticles,Enamels

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