The silent anatomy behind the noise: structural airway narrowing in pycnodysostosis

Meryem Raoui; Anas Orgi; Salma Ammouri

doi:10.5455/ajdi.20260407083437

A J Diagn Imaging. 2026; 12(3): 143-150

doi: 10.5455/ajdi.20260407083437

The silent anatomy behind the noise: structural airway narrowing in pycnodysostosis

Meryem Raoui, Anas Orgi, Salma Ammouri.

Abstract
Background:
Pycnodysostosis, also known as Toulouse-Lautrec syndrome, is a rare autosomal recessive osteosclerotic skeletal dysplasia caused by CTSK gene mutations encoding cathepsin K, leading to defective osteoclastic bone resorption. It is characterized by short stature, craniofacial dysmorphism, acro-osteolysis, and bone fragility.

Case Presentation:
We report the case of a 14-year-old girl born to consanguineous parents who presented with persistent snoring despite prior adeno-tonsillectomy, progressive conductive hearing loss, recurrent fractures, and characteristic craniofacial abnormalities. Craniofacial CT demonstrated diffuse osteosclerosis, persistent cranial sutures, mandibular hypoplasia, mastoid sclerosis, and complete agenesis of the frontal, maxillary, and sphenoidal sinuses—an exceptionally rare manifestation. Laboratory findings excluded osteopetrosis.

Conclusion:
This case expands the phenotypic spectrum of pycnodysostosis by documenting complete paranasal sinus agenesis and emphasizes the essential role of CT imaging in diagnosing structural causes of persistent upper airway dysfunction and conductive hearing loss in affected patients.

Key words: Pycnodysostosis; Cathepsin K deficiency; Craniofacial dysplasia; Sinus agenesis; Mastoid sclerosis; Conductive hearing loss; Snoring; Genetic bone disease; Consanguinity

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How to Cite this Article

Pubmed Style

Raoui M, Orgi A, Ammouri S. The silent anatomy behind the noise: structural airway narrowing in pycnodysostosis. A J Diagn Imaging. 2026; 12(3): 143-150. doi:10.5455/ajdi.20260407083437

Web Style

Raoui M, Orgi A, Ammouri S. The silent anatomy behind the noise: structural airway narrowing in pycnodysostosis. https://www.wisdomgale.com/ajdi/?mno=316659 [Access: August 30, 2026]. doi:10.5455/ajdi.20260407083437

AMA (American Medical Association) Style

Raoui M, Orgi A, Ammouri S. The silent anatomy behind the noise: structural airway narrowing in pycnodysostosis. A J Diagn Imaging. 2026; 12(3): 143-150. doi:10.5455/ajdi.20260407083437

Vancouver/ICMJE Style

Raoui M, Orgi A, Ammouri S. The silent anatomy behind the noise: structural airway narrowing in pycnodysostosis. A J Diagn Imaging. (2026), [cited August 30, 2026]; 12(3): 143-150. doi:10.5455/ajdi.20260407083437

Harvard Style

Raoui, M., Orgi, . A. & Ammouri, . S. (2026) The silent anatomy behind the noise: structural airway narrowing in pycnodysostosis. A J Diagn Imaging, 12 (3), 143-150. doi:10.5455/ajdi.20260407083437

Turabian Style

Raoui, Meryem, Anas Orgi, and Salma Ammouri. 2026. The silent anatomy behind the noise: structural airway narrowing in pycnodysostosis. American Journal of Diagnostic Imaging , 12 (3), 143-150. doi:10.5455/ajdi.20260407083437

Chicago Style

Raoui, Meryem, Anas Orgi, and Salma Ammouri. "The silent anatomy behind the noise: structural airway narrowing in pycnodysostosis." American Journal of Diagnostic Imaging 12 (2026), 143-150. doi:10.5455/ajdi.20260407083437

MLA (The Modern Language Association) Style

Raoui, Meryem, Anas Orgi, and Salma Ammouri. "The silent anatomy behind the noise: structural airway narrowing in pycnodysostosis." American Journal of Diagnostic Imaging 12.3 (2026), 143-150. Print. doi:10.5455/ajdi.20260407083437

APA (American Psychological Association) Style

Raoui, M., Orgi, . A. & Ammouri, . S. (2026) The silent anatomy behind the noise: structural airway narrowing in pycnodysostosis. American Journal of Diagnostic Imaging , 12 (3), 143-150. doi:10.5455/ajdi.20260407083437