Pyknodysostosis: report of a rare case with review of literature
Imaging Science in Dentistry
;
: 177-181, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-79855
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Seios Paranasais
/
Exame Físico
/
Prognatismo
/
Retenção Psicológica
/
Esclerose
/
Pele
/
Suturas
/
Dente Decíduo
/
Dente Supranumerário
/
Bico
Limite:
Animais
/
Humanos
Idioma:
Inglês
Revista:
Imaging Science in Dentistry
Ano de publicação:
2011
Tipo de documento:
Artigo
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