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Biochemical abnormalities in connective tissue of osteodysplasty of Melnick‐Needles and dyssegmental dwarfism
Author(s) -
Švejcar J.
Publication year - 1983
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1983.tb00448.x
Subject(s) - dwarfism , connective tissue , biology , endocrinology , medicine , genetics , gene
Biochemical findings in the connective tissue of two rare genetic skeletal dysplasias are reported. Osteodysplasty of Melnick‐Needles showed an increased content of collagen; its increased synthesis may be the expression of the sclerosing process. In the neonatally lethal dyssegmental dwarfism, abnormal gel electrophoretic patterns of collagen peptides were found. These point to a deficiency in αl ‐chains which may be the cause of an increase in cross‐linking with a change in cleavage and extractability of collagen.