Related Experiment Video

Updated: Apr 26, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
08:03

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

Published on: November 4, 2025

445

Unresolving short stature in a possible case of mucopolysccharidosis

Ac Ayuk1, Ho Obu1, Md Ughasoro1

  • 1Department of Pediatrics, University of Nigeria Teaching Hospital, Enugu, Enugu State, Nigeria.

Annals of Medical and Health Sciences Research
|July 18, 2014
PubMed

Insights

This case highlights a rare metabolic disorder, mucopolysaccharidoses, presenting as short stature and skeletal deformities. Early diagnosis is crucial for children with unexplained growth issues and developmental delays.

Area of Science:

  • Pediatric Endocrinology
  • Metabolic Disorders
  • Genetics

Background:

  • Rickets treatment can mask underlying rare metabolic disorders.
  • Short stature and skeletal deformities require comprehensive differential diagnosis.

Observation:

  • A 4-year-old male presented with persistent short stature, skeletal deformities, and developmental delays after rickets treatment.
  • Clinical examination revealed dysmorphic features including coarse facies, large head, and corneal clouding.

Findings:

  • Diagnosis of Hurler syndrome (mucopolysaccharidosis type I) was established based on clinical and radiological findings.
  • The patient exhibited severe growth failure and significant developmental delays.

Implications:

  • Emphasizes the importance of considering rare metabolic conditions like mucopolysaccharidoses in pediatric patients with unexplained symptoms.
  • Highlights the need for early and accurate diagnosis to guide appropriate management and genetic counseling.

Keywords:
ChildMetabolicMucopolysaccharidosesShort stature

More Related Videos

Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification07:23

Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification

Published on: December 3, 2016

13.2K
Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides05:16

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

Published on: May 7, 2020

8.7K

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.5K
Oligosaccharide Assembly01:24

Oligosaccharide Assembly

Protein glycosylation starts in the ER lumen and continues in the Golgi apparatus. Glycosyltransferases catalyze the addition of sugar molecules or glycosylation of proteins. Usually, these enzymes add sugars to the hydroxyl groups of selected serine or threonine residues to form O-linked glycans or the amino groups of asparagine residues to form N-linked glycans. Different positions on the same polypeptide chain can contain differently linked glycans.
Multiple sugar molecules that may or may...
2.6K
Nature and Nurture01:10

Nature and Nurture

Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience,...
19.4K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.1K
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
15.2K
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,...
31.2K