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[Smith-Lemli-Opitz Syndrome; endocrinologic study (author's transl)]. 1981

M T Muñoz Calvo, and M J Ceñal González, and I Parra Martínez, and F Hervás Olivares, and J A Nieto Cuartero, and R G Lestache

A case of Smith-Lemli-Opitz syndrome is reported in an 8 year old boy of related parents. He presented clinical features of the syndrome, with a normal male karyotype, distal axial triradii and increased number of whorl dermatoglyphic. Cerebral T.A.C. revealed an hypodensity zone in the left cerebral hemisphere. Authors studied the hypotalamo-pituitary axis finding a normal secretion of FSH and LH. The secretion of TSH and PRL under TRH stimulation showed an enhanced response. Plasma GH response to insulin induced hypoglycemia plus L-arginine was within normal limits.

UI MeSH Term Description Entries
D008297 Male Males
D008607 Intellectual Disability Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D008831 Microcephaly A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.) Microlissencephaly,Severe Congenital Microcephaly,Congenital Microcephalies, Severe,Congenital Microcephaly, Severe,Microcephalies,Microcephalies, Severe Congenital,Microcephaly, Severe Congenital,Microlissencephalies,Severe Congenital Microcephalies
D010908 Pituitary Hormones, Anterior Hormones secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Structurally, they include polypeptide, protein, and glycoprotein molecules. Adenohypophyseal Hormones,Anterior Pituitary Hormones,Hormones, Adenohypophyseal,Hormones, Anterior Pituitary
D001786 Blood Glucose Glucose in blood. Blood Sugar,Glucose, Blood,Sugar, Blood
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003878 Dermatoglyphics The study of the patterns of ridges of the skin of the fingers, palms, toes, and soles. Fingerprints,Plantar Prints,Fingerprint,Plantar Print,Print, Plantar,Prints, Plantar
D006130 Growth Disorders Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth. Stunted Growth,Stunting,Disorder, Growth,Growth Disorder,Growth, Stunted,Stuntings
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities

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