THE DE LANGE SYNDROME: REPORT OF THREE CASES.
Three cases of de Lange's syndrome are described. This condition is characterized by generally severe mental retardation, reduced stature, mild microcephaly, hypertrichosis, various anomalies of hands and feet, and a peculiar facies. The most outstanding features of the latter are the low forehead, profuse, generally confluent eyebrows, abundant long eyelashes, eyes that frequently slant downwards and outwards in antimongoloid fashion, pug nose with prominent anteverted nostrils, increased distance between nose and vermilion border of upper lip, slight reduction in size of chin, and often abnormally low-placed ears. The etiology of de Lange's syndrome is at present unknown.
D000293:Adolescent; D001827:Body Height; D002648:Child; D000013:Congenital Abnormalities; D003635:De Lange Syndrome; D004426:Ear Deformities, Acquired; D004431:Ear, External / Q000002:abnormalities*; D005123:Eye; D005138:Eyebrows; D005149:Facial Expression; D006226:Hand Deformities; D006628:Hirsutism; D006801:Humans; D006983:Hypertrichosis; D008607:Intellectual Disability; D008046:Lip; D008334:Mandible; D008831:Microcephaly; D009666:Nose / Q000002:abnormalities*; D009667:Nose Deformities, Acquired
ABNORMALITIES; ADOLESCENCE; BODY HEIGHT; CHILD; EAR, EXTERNAL, DEFORMITY; EYE; EYEBROWS; FACIAL EXPRESSION; HAND DEFORMITIES; HYPERTRICHOSIS; LIP; MANDIBLE; MENTAL RETARDATION; MICROCEPHALY; NOSE DEFORMITIES