Related Experiment Video

Updated: Aug 14, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Global developmental delay, osteopenia and ectodermal defect: a new syndrome

Raffaella Zannolli1, Sabrina Buoni, Francesca Macucci

  • 1Department of Paediatrics, Obstetrics and Reproductive Medicine, Section of Paediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy. zannolli@unisi.it

Brain & Development
|December 22, 2005
PubMed

Insights

This study identifies a new syndrome in children with global developmental delay, characterized by osteopenia and unique skin defects. Early recognition of these phenotypes may indicate a specific genetic cause.

Area of Science:

  • Pediatric Neurology
  • Clinical Genetics
  • Dermatology

Background:

  • Global developmental delay (GDD) is a significant social issue often diagnosed late.
  • Phenotypic characterization of GDD, particularly with central nervous system (CNS) impairment, requires further investigation.

Observation:

  • Three children presented with GDD, osteopenia, and distinct skin abnormalities.
  • Skin defects included abnormal keratin differentiation, sweat gland alterations, and melanocyte dysfunction.
  • Ultrastructural analysis revealed hyperkeratosis, granular layer thickening, and issues with melanosome migration.

Findings:

  • The observed combination of GDD, osteopenia, and specific skin defects suggests a previously unrecognized syndrome.
  • Detailed skin biopsy findings point towards a potential genetic basis affecting keratinocytes, sweat glands, and melanocytes.
  • Neurological, imaging, metabolic, and genetic evaluations were integrated to define the syndrome's characteristics.

Implications:

  • This report highlights a novel association that could serve as a key diagnostic sign for a specific genetic disorder.
  • Recognition of this syndrome may lead to earlier diagnosis and targeted interventions for affected children.
  • Further research into the genetic underpinnings of this syndrome is warranted to improve patient outcomes.
Abstract

More Related Videos

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

Bone Disorders01:29

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
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,...
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
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...
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...
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.