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Dysplasia epiphysealis hemimelica combined with contralateral accessory scaphoid bone: A case report and literature review.

08:00 EDT 1st November 2019 | BioPortfolio

Summary of "Dysplasia epiphysealis hemimelica combined with contralateral accessory scaphoid bone: A case report and literature review."

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is a rare, developmental bone disorder of childhood.

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This article was published in the following journal.

Name: Medicine
ISSN: 1536-5964
Pages: e17887

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Medical and Biotech [MESH] Definitions

A disease of bone marked by thinning of the cortex and replacement of bone marrow by gritty fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC). (From Dorland, 28th ed)

A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.

Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).

An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR.

An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.

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