Imaging Sci Dent.  2011 Dec;41(4):177-181. 10.5624/isd.2011.41.4.177.

Pyknodysostosis: report of a rare case with review of literature

• Ramaiah KK
• George GB
• Padiyath S
• Sethuraman R
• Cherian B

• KMID: 2167404
• DOI: http://doi.org/10.5624/isd.2011.41.4.177

Abstract

Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. We report a case of 17-year-old girl who presented with a chief complaint of retention of deciduous teeth. General physical examination demonstrated short stature, frontal and parietal bossing, depressed nasal bridge, beaked nose, hypoplastic midface, wrinkled skin over the finger tips, and nail abnormalities. Radiographs showed multiple impacted permanent and supernumerary teeth, hypoplastic paranasal sinuses with acro-osteolysis of terminal phalanges, and open fontanelles, and sutures along with wormian bones in the lambdoidal region.

Keyword

Pyknodysostosis; Craniofacial Abnormalities; Dysostoses; Acro-Osteolysis

MeSH Terms

Acro-Osteolysis
Adolescent
Animals
Beak
Craniofacial Abnormalities
Dysostoses
Extremities
Fingers
Frontal Sinus
Humans
Hyperostosis
Nails, Malformed
Nose
Paranasal Sinuses
Physical Examination
Prognathism
Pycnodysostosis
Retention (Psychology)
Sclerosis
Skin
Sutures
Tooth, Deciduous
Tooth, Supernumerary

Figure

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  Fig. 1 A and B. Clinical photographs show frontal bossing, beaked nose and midfacial hypoplasia.

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  Fig. 2 Intraoral photograph shows V-shaped high arched palate with midline groove and multiple retained deciduous teeth.

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  Fig. 3 A. Panoramic radiograph shows multiple impacted permanent and supernumerary teeth. B. Lateral cephalogram shows hypoplastic paranasal sinuses with relative mandibular prognathism. C. Hand-wrist radiograph shows acro-osteolysis of terminal phalanges.

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  Fig. 4 A and B. Three-dimensional CT images show open fontanelles and sutures, wormian bones in the lambdoidal region.

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