Double heterozygosity in bone growth disorders: four new observations and review.

Source/Author: Flynn MA, Pauli RM. 

Abstract

Reviews the following cases of double heterozygosity: achondroplasia & spondyloepiphyseal dysplasia congenita, achondroplasia & pseudoachondroplasia, achondroplasia & osteogenesis imperfecta type I, achondroplasia & hypochondroplasia, pseudoachondroplasia & spondyloepiphyseal dysplasia congenita, Leri-Weill Dyschondrosteosis & hypochondroplasia/achondroplasia, osteogenesis imperfecta & pseudoachondroplasia.

Dyschondrosteosis

Source/Author: National Organization of Rare Diseases 

Web-based (medical)

Brief description of the clinical features/characteristics, medical complications and genetics of this condition.

Leri-Weill dyschondrosteosis

Source/Author: Geneva Foundation for Medical Education and Research

Web-based (medical) 

X-rays, photographs and links to articles on this condition. (warning: there is one surgical photo)

LERI-WEILL DYSCHONDROSTEOSIS; LWD

Source/Author: OMIM, Online Mendelian Inheritance in Man Medical/Scientific description of Leri-Weill Dyschondrosteosis with emphasis on the genetics of the condition