Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Adrenal Gland Disorders01:27

Adrenal Gland Disorders

3.7K
Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
3.7K
Desmosomes01:05

Desmosomes

7.5K
The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein...
7.5K
Cohesins02:20

Cohesins

4.5K
Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of...
4.5K
Sex-linked Disorders01:43

Sex-linked Disorders

94.4K
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.
94.4K
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

2.2K
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
2.2K
Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

36
Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the...
36

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Investigation of knockdown resistance mutations in Ctenocephalides felis samples from the cat populations of Istanbul Province.

Polish journal of veterinary sciences·2025
Same author

Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project.

Endocrine connections·2023
Same author

Evaluation of catch-up growth in severe pediatric Hashimoto's hypothyroidism.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2023
Same author

Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.

Journal of endocrinological investigation·2023
Same author

"Baby-led weaning" - Progress in infant feeding or risky trend?

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2022
Same author

Vitamin D and calcium intakes in general pediatric populations: A French expert consensus paper.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2022
Same journal

Repeated irradiation from micro-computed tomography scanning at 2, 4 and 6 months of age does not induce damage to tibial bone microstructure in male and female CD-1 mice.

BoneKEy reports·2017
Same journal

Role of cortical bone in hip fracture.

BoneKEy reports·2017
Same journal

Plant-derived anticancer agents: a promising treatment for bone metastasis.

BoneKEy reports·2017
Same journal

Protein/amino-acid modulation of bone cell function.

BoneKEy reports·2017
Same journal

CD8<sup>+</sup> T<sub>EMRA</sub> cells: higher background levels may predict delayed fracture healing.

BoneKEy reports·2017
Same journal

Inhibiting cathepsin K in mice: impact on fracture repair.

BoneKEy reports·2017
See all related articles

Related Experiment Video

Updated: May 4, 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

446

Acrodysostosis syndromes.

C Silve1, C Le-Stunff2, E Motte2

  • 1INSERM U986, Centre de Référence des Maladies Rares du Métabolisme phospho-calcique, Faculté de Médecine, Université Paris-Sud , Le Kremlin Bicêtre, France ; Laboratoire de Biochimie Hormonale et Génétique, Hôpital Bichat Claude Bernard , Paris, France.

Bonekey Reports
|December 24, 2013
PubMed
Summary
This summary is machine-generated.

Acrodysostosis is a rare skeletal dysplasia with two newly identified genetic forms: ADOHR (PRKAR1A defects) and ADOP4 (PDE4D defects), clarifying previous confusion with related hormonal resistance disorders.

More Related Videos

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

12.4K
Quantification of Orofacial Phenotypes in Xenopus
09:26

Quantification of Orofacial Phenotypes in Xenopus

Published on: November 6, 2014

9.2K

Related Experiment Videos

Last Updated: May 4, 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

446
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

12.4K
Quantification of Orofacial Phenotypes in Xenopus
09:26

Quantification of Orofacial Phenotypes in Xenopus

Published on: November 6, 2014

9.2K

Area of Science:

  • Genetics
  • Endocrinology
  • Skeletal Dysplasias

Background:

  • Acrodysostosis (ADO) is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and nasal hypoplasia.
  • Previous literature confused ADO with Albright Hereditary Osteodystrophy (AHO)-related disorders like pseudohypoparathyroidism type 1a (PHP1a), obscuring the role of hormonal resistance.

Purpose of the Study:

  • To clarify the genetic heterogeneity of acrodysostosis.
  • To differentiate ADO from AHO-related disorders by investigating hormonal resistance.
  • To review identified gene defects and phenotypes in acrodysostosis syndromes.

Main Methods:

  • Identification of genetic defects in PRKAR1A and PDE4D genes in acrodysostosis patients.
  • Phenotypic characterization of patients with identified gene defects.
  • Review of literature on acrodysostosis and related conditions.

Main Results:

  • Two distinct genetic and phenotypic syndromes of acrodysostosis are now recognized: ADOHR (PRKAR1A defects) and ADOP4 (PDE4D defects).
  • PRKAR1A defects are associated with G-protein coupled receptor (GPCR) hormone resistance, typical of ADOHR.
  • PDE4D defects define the ADOP4 syndrome, also presenting with bone dysplasia.

Conclusions:

  • Genetic defects in PRKAR1A and PDE4D explain the heterogeneity of acrodysostosis.
  • Distinguishing between ADOHR and ADOP4 is crucial for understanding associated hormonal resistance.
  • Further research into the GPCR-Gsα-cAMP-PKA signaling pathway is essential for managing these rare skeletal dysplasias.