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Case Reports
. 2016 Apr-Jun;6(2):43-45.
doi: 10.13107/jocr.2250-0685.426.

Short stature Revealing a Pycnodysostosis: A Case Report

Hayat Aynaou  1 , Imane Skiker  2 , Hanane Latrech  1
Affiliations
Case Reports

Short stature Revealing a Pycnodysostosis: A Case Report

Hayat Aynaou et al. J Orthop Case Rep. 2016 Apr-Jun.

Abstract

Introduction: Pycnodysostosis is a rare genetic disease characterized by osteosclerosis and bone fragility. The clinical aspects are varied including short stature, acro-osteolysis of distal phalanges, and dysplasia of the clavicles. Oral and maxillofacial manifestations of this disease are very clear. The head is usually large, a beaked nose, obtuse mandibular angle, and both maxilla and mandible are hypoplastic. Dental abnormalities are common. We report a case with the typical clinical and radiological characteristics of the Pycnodysostosis associated with a conductive hearing loss, an association rarely reported.

Case presentation: A 12-year-female was admitted in our institute for short stature with a dysmorphic facies for evaluation. The patient reported a history of multiple fractures of the long bones after a trivial fall. On physical examination, she had the following features: short stature, limited mouth opening, short hands and feet with dysplastic nails; frontal and occipital bossing; and hypoplasia of the maxilla and mandible. Examination of the mouth: grooved palate, caries of the teeth, impacted and malposed teeth, persistent deciduous teeth and missing teeth. Laboratory investigations were normal. The radiographic examination showed a generalized increase in the bone density, slight condensation of the skull base and a very open mandibular angle. X-rays showed tapered phalanges with acro-osteolysis of the distal phalanges. A symptomatic treatment was proposed based on fracture prevention, oral hygiene, frequent dental visits and psychiatric support.

Conclusion: The clinical and radiological features are the bases for the diagnosis of this disease. It is important to make the diagnosis as early as possible in order to plan the treatment and to provide a better life quality to the patients.

Keywords: Pycnodysostosis; deafness; dysmorphy.

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Conflict of interest statement

Conflict of Interest: Nil

Figures

Figure 1
Figure 1
Picture ofbrachydactyly ofhands (a) and feet (b).
Figure 2
Figure 2
Picture of anterior (a) and lateral (b) aspects showing frontal and occiptal bossing; midfacial hypoplasia; retrognathia.
Figure 3
Figure 3
Picture of narrow high arched grooved palate.
Figure 4
Figure 4
X-ray of the spine shows general densification and slight condensation of trays vertebral bodies.
Figure 5
Figure 5
X-ray of tibial shaft shows a horizontal fissure in the middle portion.
Figure 6
Figure 6
Lateral skull film shows obtuse gonial angle and elongated articular.
Figure 7
Figure 7
X-ray of the hand shows an acro-osteolysis of the distal phalange.
See this image and copyright information in PMC

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