Send to

Choose Destination
See comment in PubMed Commons below
Arch Fr Pediatr. 1988 Aug-Sep;45(7):477-81.

[Lethal syndromes with thin bones].

[Article in French]

Author information

Unité de Recherches de Génétique Médicale (INSERM U 12), Hôpital des Enfants-Malades, Paris.


The authors report six cases from six different families of lethal brittle bone disease with narrow diaphyses and thin ribs. This phenotype should be dissociated from the lethal forms of osteogenesis imperfecta and encompass two diseases. In the first, autosomal recessive, the metaphyses of long bones are narrow, with a membranous ossification, without cartilagenous residue. Cultured fibroblasts demonstrate a marked increase in type V collagen. In the second type, the metaphyses are enlarged and the babies have a facial dysmorphism with hypoplasia of the eyebrows, frontal bossing and a small mouth.

[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center