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Congenital trichomegaly, pigmentary retinal degeneration, and short stature. 1986

M A Patton, and A E Harding, and M Baraitser

UI MeSH Term Description Entries
D008297 Male Males
D012162 Retinal Degeneration A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304) Degeneration, Retinal,Degenerations, Retinal,Retinal Degenerations
D004392 Dwarfism A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. Nanism
D005138 Eyebrows Curved rows of HAIR located on the upper edges of the eye sockets. Eyebrow
D005140 Eyelashes The hairs which project from the edges of the EYELIDS.
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

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