Work

Family with probable achondrogenesis and lipid inclusions in fibroblasts

Year: 1973

Type: article

Abstract: Three stillborn sibs, two males and a female, with probable achondrogenesis, whose parents are first cousins, are reported. Fibroblast cultures revealed numerous large intracellular lipid inclusions in the two stillborns, which were available for investigation, and these were found to a lesser degree in the mother. No similar inclusions were detected in cultured amniotic cells from a 16-week pregnancy which eventually terminated in the term birth of a healthy female. The importance of a correct diagnosis and implications for genetic counselling are discussed.

Source: Archives of Disease in Childhood

DOI: 10.1136/adc.48.3.212

Authors: R. Laxova, P. T. Ohara, M. A. C. Ridler, J. A. D. Timothy

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Medical Research Council

OpenAlex ID: W2151705314