Mesomelic Dwarfism

Pedigree analysis in this kindred is compatible with an autosomal dominant inheritance. The parents and three other family members have clinical and radiological features of dyschondrosteosis. The two propositi, a boy and a girl, have mesomelic dwarfism and hypoplasia of the mandible, ulna, and fibula. It is our interpretation that mesomelic dwarfism is the clinical manifestation of the homozygous state for dyschondrosteosis. Mesomelic dwarfism is character¬ ized by short stature caused primarily by reductions in middle segments of the extremities. There are varying skeletal abnormalities as¬ sociated with it, some of which were reviewed by Bailey.1 Langer2 de¬ scribed a type of mesomelic dwarfism with hypoplasia of the mandible, ulna, and fibula. We would select his description as prototype for the chil¬ dren discussed here and would refer to this type of mesomelic dwarfism as the Langer type.Dyschondrosteosis, on the other hand, is a term applied to individ¬ uals who have relatively attenuated

show abstract

Dyschondrosteosis with tibia vara —Report of three cases

Sugiura¹,

Tomita

1984

Jap J Human Genet

View full text Add to dashboard Cite

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Mesomelic Dwarfism

Cited by 8 publications

References 3 publications

Dyschondrosteose

Dyschondrosteose

Mesomelic Dwarfism as the Homozygous Expression of Dyschondrosteosis

Dyschondrosteosis with tibia vara —Report of three cases

Contact Info

Product

Resources

About