Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

[Lethal syndromes with thin bones].

P Maroteaux¹, L Cohen-Solal, J Bonaventure

¹Unité de Recherches de Génétique Médicale (INSERM U 12), Hôpital des Enfants-Malades, Paris.

Archives Francaises De Pediatrie

|August 1, 1988

Summary

This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.

Orphanet journal of rare diseases·2022

Same author

Prenatal diagnosis of hemimegalencephaly revealing tuberous sclerosis complex.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2019

Same author

Implication of non-coding PAX6 mutations in aniridia.

Human genetics·2018

Same author

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Neurogenetics·2018

Same author

FOXE3 mutations: genotype-phenotype correlations.

Clinical genetics·2017

Same author

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Molecular psychiatry·2016

Same journal

A case of congenital myatonia (Oppenheim's disease).

Archives francaises de pediatrie·2010

Same journal

A case of severe haemolytic anemia anemia.

Archives francaises de pediatrie·2010

Same journal

On the acute anemia of the newborn.

Archives francaises de pediatrie·2010

Same journal

Intermittent jaundice; intrahepatic bile duct agenesis.

Archives francaises de pediatrie·2010

Same journal

Osteomyelitis with acute staphylococcus aureus with septicemia and pericarditis cured without surgery by iodo-sulfonamide therapy.

Archives francaises de pediatrie·2010

Same journal

Mickulicz syndrome and hepatomegaly during a diabetes mellitus.

Archives francaises de pediatrie·2010

See all related articles

This study identifies two distinct lethal brittle bone diseases, separate from osteogenesis imperfecta, characterized by narrow diaphyses and thin ribs. One type shows narrow metaphyses and increased type V collagen, while the other presents enlarged metaphyses and distinct facial features.

Area of Science:

Genetics
Pediatrics
Orthopedics

Background:

Lethal brittle bone disease, characterized by narrow diaphyses and thin ribs, presents a diagnostic challenge.
Distinguishing this phenotype from lethal forms of osteogenesis imperfecta is crucial for accurate diagnosis and management.

Observation:

Six cases from six families presented with a consistent phenotype of lethal brittle bone disease, narrow diaphyses, and thin ribs.
Clinical and radiographic findings were meticulously documented for each case.

Findings:

Two distinct autosomal recessive conditions were identified within this phenotype.
Type 1: Narrow metaphyses, membranous ossification without cartilaginous residue, and increased type V collagen in cultured fibroblasts.
Type 2: Enlarged metaphyses accompanied by specific facial dysmorphism (hypoplastic eyebrows, frontal bossing, small mouth).

Related Experiment Videos

Implications:

This research refines the classification of lethal brittle bone diseases, differentiating them from osteogenesis imperfecta.
Establishes distinct diagnostic criteria for two subtypes based on metaphyseal and facial characteristics.
Highlights the importance of genetic and collagen analysis in diagnosis.