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Related Concept Videos

Multiple Allele Traits01:49

Multiple Allele Traits

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Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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The Retinoblastoma Gene

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Related Experiment Video

Updated: Jun 12, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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Hereditary multiple exostoses: case report.

W Yinusa1, A M Owoola, I A Esin

  • 1Department of Orthopaedic and Trauma Surgery, National Orthopaedic Hospital, Igbobi, Lagos.

Nigerian Journal of Clinical Practice
|May 27, 2010
PubMed
Summary

Hereditary Multiple Exostoses (HME), a rare genetic bone dysplasia, presents as bony growths. Management involves observation unless complications or deformities arise, as seen in two pediatric cases.

Area of Science:

  • Genetics
  • Orthopedics
  • Pediatrics

Background:

  • Hereditary Multiple Exostoses (HME) is an autosomal dominant bone dysplasia.
  • Characterized by multiple osteochondromas, typically presenting after age two.
  • Rare condition with an incidence of 0.9-2 per 100,000.

Observation:

  • Two pediatric cases of HME are presented.
  • Patients exhibited painless, progressive bony swellings in limbs.
  • Forearm deformity and ulnar deviation were noted in one case.

Findings:

  • Symptomatic exostosis required surgical excision in one patient.
  • Fine needle aspiration cytology confirmed osteochondroma.
  • Clinical and radiological features were documented.

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Implications:

  • HME occurs even in less common environments.
  • Management strategy is primarily conservative ('masterly inactivity').
  • Surgical intervention is reserved for symptomatic or complicated cases.