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Related Experiment Video

Updated: May 9, 2026

A Calcium Phosphate-Induced Mouse Abdominal Aortic Aneurysm Model

A Calcium Phosphate-Induced Mouse Abdominal Aortic Aneurysm Model

Published on: November 18, 2022

Acrodysostosis associated with hypercalcemia.

Mehmet Kirnap¹, Mustafa Calis, Cumali Gokce

¹Department of Physical Medicine and Rehabilitation, Erciyes University Medical School, Kayseri, Turkey.

Hormones (Athens, Greece)

|August 13, 2013

Summary

This summary is machine-generated.

This study describes a rare case of acrodysostosis with hypercalcemia in an 18-year-old male. The findings highlight a unique presentation of this skeletal dysplasia syndrome.

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Area of Science:

Medical Genetics
Skeletal Dysplasias
Endocrinology

Background:

Acrodysostosis is a rare skeletal dysplasia characterized by short limbs and distinctive facial features.
Genetic mutations typically affect the GNAS gene, leading to pseudohypoparathyroidism-like features.

Observation:

An 18-year-old male presented with progressive limb dysfunction, clumsiness, and specific facial abnormalities including frontal bossing and hypertelorism.
Radiographic examination revealed peripheral dysostosis with short, broad metacarpals and phalanges, confirming acrodysostosis.
Biochemical analysis showed hypercalcemia, elevated alkaline phosphatase, and low parathyroid hormone (PTH), with normal vitamin D levels.

Findings:

The patient's presentation and diagnostic findings represent a novel association of acrodysostosis with hypercalcemia.
A normal karyotype (46, XY) was observed, ruling out chromosomal abnormalities as the primary cause.
This case expands the known clinical spectrum of acrodysostosis.

Implications:

This case suggests a potential link between acrodysostosis and hypercalcemia, warranting further investigation into the underlying mechanisms.
Early diagnosis and management of associated endocrine abnormalities are crucial for improving patient outcomes.
This first description of acrodysostosis associated with hypercalcemia contributes valuable knowledge to the understanding of rare skeletal disorders.