Pycnodysostosis

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

Frontal bossing

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.


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PMID (PMCID)
29167721
(5694160)
 OTHER
Clinical and radiographic features of pycnodysostosis: A case report.
Rodrigues C, Gomes FA, Arruda JA, Silva L, Alvares P, da Fonte P, Sobral AP, Silveira M.
J Clin Exp Dent. 2017;9(10):e1276-e1281.
Clinical examination showed midface hypoplasia, prominent cheeks, a high nasal bridge, beaked nose, spoon-shaped fingers, frontal bossing, open fontanelles and dental alterations, findings compatible with pycnodysostosis.
7640739
 MIXED_SAMPLE Infant, Newborn
[Familial form of pyknodysostosis with hematologic manifestations in a child].
Le Bouedec S, Pellier I, Rialland X, Granry JC.
Arch Pediatr. 1995;2(5):456-9.
A boy, born from consanguineous parents presented with classical features of pyknodysostosis: short-limbed stature, large skull, frontal bossing, wide anterior fontanelle and tendency to fracture.