A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis

W. N. Meigel; P. K. Müller; B. F. Pontz; N. Sörensen; J. Spranger

doi:10.1007/BF01468935

A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis

W. N. Meigel, P. K. Müller, B. F. Pontz, N. Sörensen, J. Spranger

Publikation: Beitrag in Fachzeitschrift › Artikel › Begutachtung

19 Zitate (Scopus)

Abstract

An apparently "new" connective tissue disorder is described in the 10 year old son of consanguineous parents. The patient showed clinical and radiographic abnormalities reminiscent of both osteogenesis imperfecta and Marfan syndrome. Collagen biosynthesis was analysed in fibroblast cultures from skin biopsies. Fibroblasts of the patient synthesized different types of α1 chains. No α2 chains could be detected in cell extracts or in culture media suggesting a defect in the synthesis of these compounds. The peculiar pattern of clinical abnormalities may be causally related to the apparent defect in collagen synthesis.

Originalsprache	Englisch
Seiten (von - bis)	906-912
Seitenumfang	7
Fachzeitschrift	Klinische Wochenschrift
Jahrgang	52
Ausgabenummer	19
DOIs	https://doi.org/10.1007/BF01468935
Publikationsstatus	Veröffentlicht - Okt. 1974
Extern publiziert	Ja

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10.1007/BF01468935

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title = "A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis",

abstract = "An apparently {"}new{"} connective tissue disorder is described in the 10 year old son of consanguineous parents. The patient showed clinical and radiographic abnormalities reminiscent of both osteogenesis imperfecta and Marfan syndrome. Collagen biosynthesis was analysed in fibroblast cultures from skin biopsies. Fibroblasts of the patient synthesized different types of α1 chains. No α2 chains could be detected in cell extracts or in culture media suggesting a defect in the synthesis of these compounds. The peculiar pattern of clinical abnormalities may be causally related to the apparent defect in collagen synthesis.",

keywords = "Constitutional connective tissue disorder, collagen biosynthesis, fibroblast cultures",

author = "Meigel, {W. N.} and M{\"u}ller, {P. K.} and Pontz, {B. F.} and N. S{\"o}rensen and J. Spranger",

year = "1974",

month = oct,

doi = "10.1007/BF01468935",

language = "English",

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T1 - A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis

AU - Meigel, W. N.

AU - Müller, P. K.

AU - Pontz, B. F.

AU - Sörensen, N.

AU - Spranger, J.

PY - 1974/10

Y1 - 1974/10

N2 - An apparently "new" connective tissue disorder is described in the 10 year old son of consanguineous parents. The patient showed clinical and radiographic abnormalities reminiscent of both osteogenesis imperfecta and Marfan syndrome. Collagen biosynthesis was analysed in fibroblast cultures from skin biopsies. Fibroblasts of the patient synthesized different types of α1 chains. No α2 chains could be detected in cell extracts or in culture media suggesting a defect in the synthesis of these compounds. The peculiar pattern of clinical abnormalities may be causally related to the apparent defect in collagen synthesis.

AB - An apparently "new" connective tissue disorder is described in the 10 year old son of consanguineous parents. The patient showed clinical and radiographic abnormalities reminiscent of both osteogenesis imperfecta and Marfan syndrome. Collagen biosynthesis was analysed in fibroblast cultures from skin biopsies. Fibroblasts of the patient synthesized different types of α1 chains. No α2 chains could be detected in cell extracts or in culture media suggesting a defect in the synthesis of these compounds. The peculiar pattern of clinical abnormalities may be causally related to the apparent defect in collagen synthesis.

KW - Constitutional connective tissue disorder

KW - collagen biosynthesis

KW - fibroblast cultures

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JO - Klinische Wochenschrift

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A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis

Abstract

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