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[Pycnodysostosis: about a case].

Abdelhakim Elyajouri¹, Mohammed Benyahia¹, Rachid Abilkassem¹

¹Service de Pédiatrie, Hôpital Militaire d'Instructions Mohamed V, CHU Ibn Sina, Rabat, Maroc.

The Pan African Medical Journal

|April 24, 2019

Summary

Pycnodysostosis is a rare genetic bone disorder causing osteocondensation and growth issues. This case study details a child

Area of Science:

Genetics
Pediatrics
Radiology

Background:

Pycnodysostosis is a rare autosomal recessive disorder.
Characterized by osteosclerosis, short stature, and skeletal abnormalities.

Observation:

An 11-year-old male with a history of recurrent fractures and consanguineous parents.
Presented with dysmorphic features including frontal bossing, persistent fontanelle, micrognathia, and dental malocclusion.
Radiographic findings revealed generalized osteosclerosis, particularly in the skull base and long bones, with tapered phalanges.

Findings:

Clinical and radiological signs confirmed pycnodysostosis.
The patient exhibited severe growth retardation (-4DS) and skeletal deformities.
Bone densitometry was normal, differentiating it from osteoporosis.

Keywords:

Osteopathy pediatrics pycnodysostosis

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Implications:

Highlights the diagnostic challenges of pycnodysostosis due to its rarity and resemblance to other bone disorders.
Emphasizes the importance of clinical and radiological evaluation for early diagnosis.
Recommends genetic counseling and multidisciplinary management including dental and orthopedic interventions.