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Items in this list may be obtained from the sources cited. Contact information reflects the most current data about the source that has been provided to the MCH Digital Library.


Displaying records 1 through 3 (3 total).

O'Brien D. 1970. Rare inborn errors of metabolism in children with mental retardation. Washington, DC: U.S. Department of Health, Education, and Welfare, Maternal and Child Health Service, 125 pp.

Annotation: This publication is intended to offer to pediatricians and allied professions interested in mental retardation clinical information and diagnostic guidelines on a group of individually rare syndromes on which little information is available. The descriptions in this booklet are mostly confined to states with ill defined physical signs in which the diagnosis depends on laboratory confirmation. In each case, the clinical and laboratory findings are briefly stated, together with a summary of current thought on the underlying biochemical disorder, the genetics, and the treatment. The diagnostic and screening tests are outlined with the individual syndromes and are also set out in greater detail in a special section. A brief summary of the use of amniocentesis and tissue culture techniques to detect cytogenetic and biochemical aberrations is also included.

Keywords: Allied health personnel, Amniocentesis, Biochemical genetics, Diagnostic tests, Mental retardation, Metabolic diseases, Pediatricians, Tests

Bi-Regional Institute on Earlier Recognition of Handicapping Conditions (1970: University of California, Berkeley). 1970. Proceedings. Berkeley, CA: University of California, School of Public Health, 159 pp.

Annotation: These proceedings discuss acrocephalosyndactyly, craniofacial dysotosis, and related syndromes; genetic counseling clinics; minor anomalies as indicators of altered morphogenesis; biochemical aspects of handicapping conditions; biochemical screening; evaluation of screening procedures; what happens after screening; children and computers; prevention of mental retardation; fetal and neonatal assessment; newborn hearing screening; congenital dislocated hip in the Navajo Indian; mass computer evaluation of school children for heart disease; implications of screening techniques for comprehensive care; prevention of behavior disorders in early childhood; remediation of learning disabilities; poverty; and delivery of health services to children in the inner city.

Keywords: Acrocephalosyndactylia, American Indians, Assessment, Behavior disorders, Biochemical genetics, Children, Computers, Congenital hip dislocations, Craniofacial abnormalities, Developmental screening, Diagnosis, Disabilities, Evaluation, Genetic counseling, Genetic screening, Health services delivery, Hearing screening, Heart diseases, Inner city, Learning disabilities, Mental retardation, Newborn infants, Poverty, Prevention

University of Alabama Medical Center. 1967. International Seminar on Medical Genetics, August 31-September 3, 1966. Washington, DC: U.S. Children's Bureau; reprinted from the Alabama Journal of Medical Sciences. 3(4):351-518, 530. October 1996, 167 pp.

Annotation: These proceedings discuss genetics in expanding health programs for mothers and children; biochemical genetics in medicine; cleft lip and cleft palate in Iceland; genetics studies in human dental caries; old and new data on the genetics of human populations; medical and dental findings in the Brandywine Isolate; genetical investigations in mental retardation; clinical genetics at a population level in the ethnicity of disease in the United States; gene dosage effects in man; dermatoglyphics and chromosomes; reflections on 20 years experience of genetic counseling; gene function; diseases at the molecular level; diagnosis and management of metabolic abnormalities; epidemiology of selected genetic diseases; clinical cytogenetics; and indications for chromosome analyses.

Contact: Maternal and Child Health Library at Georgetown University, E-mail: [email protected] Web Site: https://www.mchlibrary.org Available from the website.

Keywords: Biochemical genetics, Cleft lip, Cleft palate, Conferences, Cytogenetics, Dental caries, Disease, Epidemiology, Ethnic factors, Genetics, Iceland, Mental retardation, Metabolic diseases

   

The MCH Digital Library is one of six special collections at Geogetown University, the nation's oldest Jesuit institution of higher education. It is supported in part by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under award number U02MC31613, MCH Advanced Education Policy with an award of $700,000/year. The library is also supported through foundation and univerity funding. This information or content and conclusions are those of the author and should not be construed as the official position or policy of, nor should any endorsements be inferred by HRSA, HHS or the U.S. Government.