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Pleiotropy01:33

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,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Cyclohexenones via Michael Addition and Aldol Condensation: The Robinson Annulation01:27

Cyclohexenones via Michael Addition and Aldol Condensation: The Robinson Annulation

Robinson annulation is a base-catalyzed reaction for the synthesis of 2-cyclohexenone derivatives from 1,3-dicarbonyl donors (such as cyclic diketones, β-ketoesters, or β-diketones) and α,β-unsaturated carbonyl acceptors. Named after Sir Robert Robinson, who discovered it, this reaction yields a six-membered ring with three new C–C bonds (two σ bonds and one π bond).
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

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Updated: Jun 20, 2026

Transcriptomic Analysis of Human Retinal Surgical Specimens Using jouRNAl
10:32

Transcriptomic Analysis of Human Retinal Surgical Specimens Using jouRNAl

Published on: August 14, 2013

Robinow syndrome.

Ss Suresh1

  • 1Department of Orthopaedics Ibri Regional Referral Hospital, Ibri, Sultanate of Oman.

Indian Journal of Orthopaedics
|September 16, 2009
PubMed
Summary
This summary is machine-generated.

Robinow syndrome, a rare genetic disorder, causes mesomelic dwarfism primarily affecting limbs and spine. This report details two cases highlighting key skeletal and facial features for improved diagnosis.

Keywords:
DwarfismRobinow syndromescoliosis

Related Experiment Videos

Last Updated: Jun 20, 2026

Transcriptomic Analysis of Human Retinal Surgical Specimens Using jouRNAl
10:32

Transcriptomic Analysis of Human Retinal Surgical Specimens Using jouRNAl

Published on: August 14, 2013

Area of Science:

  • Genetics
  • Pediatrics
  • Orthopedics

Background:

  • Robinow syndrome is a rare autosomal recessive disorder characterized by mesomelic dwarfism.
  • Skeletal deformities typically involve the forearms, hands, and dorsal spine, sparing the lower extremities.
  • Distinctive fetal facies are often present in early childhood.

Purpose of the Study:

  • To report two cases of Robinow syndrome.
  • To highlight associated vertebral segmentation defects and rib fusion.
  • To emphasize characteristic brachymelia and facial features for diagnostic clarity.

Main Methods:

  • Clinical case reporting.
  • Review of patient medical records.
  • Physical examination and skeletal imaging (implied).

Main Results:

  • Two cases of Robinow syndrome were identified.
  • Both cases exhibited severe brachymelia (shortening of limbs).
  • Associated findings included vertebral segmentation defects, rib fusion, and characteristic facial features.

Conclusions:

  • Robinow syndrome diagnosis is supported by characteristic skeletal and facial findings.
  • Vertebral and rib anomalies can be associated features.
  • Early recognition aids in management and genetic counseling.