Related Experiment Video

Updated: Aug 18, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

Statural growth in Williams-Beuren syndrome

R Pankau1, C J Partsch, A Gosch

  • 1Children's Hospital, University of Kiel, Federal Republic of Germany.

European Journal of Pediatrics
|October 1, 1992
PubMed

Insights

Children with Williams-Beuren syndrome experience significant growth delays and shorter adult stature, despite normal skeletal development and earlier puberty. This impacts their final height compared to genetic potential.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Human Growth and Development

Background:

  • Williams-Beuren syndrome is a genetic disorder affecting multiple aspects of development.
  • Growth patterns in individuals with Williams-Beuren syndrome require detailed analysis.

Purpose of the Study:

  • To analyze the spontaneous growth patterns in a cohort of patients with Williams-Beuren syndrome.
  • To compare growth parameters with normal population standards and genetic height potential.

Main Methods:

  • A mixed longitudinal and cross-sectional study design was employed.
  • Growth parameters including birth length, growth velocity, pubertal timing, and adult height were analyzed.
  • Data from 165 patients (75 girls, 90 boys) were collected and statistically analyzed.

Main Results:

  • Intrauterine growth retardation was observed in 35% of girls and 22% of boys.
  • Poor growth persisted through early childhood, with mean growth following the 3rd percentile until ages 9 (girls) and 11 (boys).
  • Pubertal growth spurt and menarche occurred 1-2 years earlier than normal. Mean adult height was significantly below the 3rd percentile for both sexes, with a notable deficit compared to target height.

Conclusions:

  • Patients with Williams-Beuren syndrome exhibit characteristic growth deficiencies, resulting in reduced adult height.
  • Despite early puberty and normal skeletal progression, final height is substantially impacted.
  • Growth monitoring and potential interventions should consider these specific patterns in Williams-Beuren syndrome.

More Related Videos

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model08:42

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Published on: July 3, 2020

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model08:03

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Published on: November 4, 2025

Related Concept Videos

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,...
Notch Signaling Pathway03:14

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
Multipotency and Niche of Bulge Stem Cell01:06

Multipotency and Niche of Bulge Stem Cell

A hair follicle or HF is a small part of the skin that produces the hair shaft. Paul Gerson Unna was the first to observe a bulge in the human hair follicle's outer root sheath (ORS). The bulge is present between the sebaceous gland and the arrector pili muscle and is the niche for hair follicle stem cells (HFSCs). The bulge is also a niche for melanocyte stem cells, and their loss results in graying of hair. The HFSCs express Sox9 and Lhx2, which help them maintain stemness and prevent...
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...