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[T]
Cleidocranial dysplasia with spina bifida:
case report
[I]
Displasia cleido-craniana com espinha bfida: relato de caso
[A]
Mubeen Khan[a], Rai Puja[b]
[a]
Professor and head of Department of Oral Medicine and Radiology Government Dental College and Research Institute,
Bangalore - India.
[b]
Postgraduate student, Department of Oral Medicine and Radiology, Government Dental College and Research Institute,
Bangalore - India, e-mail: pujas.rai@gmail.com
[R]
Abstract
OBJECTIVE: To present and discuss a case of a rare disease in a 35 year old otherwise healthy male
Indian in origin reported to the Department of Oral Medicine and Radiology of the Dental College and
Research Institute, Bangalore, India. DISCUSSION: The cleidocranial dysplasia is a rare disease which
can occur either spontaneously (40%) or by an autosomal dominant inheritance. The dentists are, most
of the times, the first professionals who patients look for to solve their problem, since there is a delay
in the eruption and /or absence of permanent teeth. In the present case multiple missing teeth was the
reason for patients visit to odontologist. CONCLUSION: An early diagnosis allows proper orientation
for the treatment, offering a better life quality for the patient.
[P]
Keywords: Cleidocranial dysplasia. Aplastic clavicles. Delayed eruption. Supernumerary teeth.
Spina bifida.
[B]
Resumo
OBJETIVO: Apresentar e discutir um caso de doena rara em paciente masculino, de 35 anos de idade, sadio, de
modo geral, de origem indiana, que foi encaminhado ao Departamento de Medicina Bucal e Radiologia da Escola de
Odontologia e Instituto de Pesquisa, Bangalore, ndia. DISCUSSO: A displasia cleidocraniana uma doena rara
que pode ocorrer espontaneamente (40%) ou por herana autossmica dominante. O cirurgio-dentista , na maioria
das vezes, o primeiro profissional que o paciente procura para soluo de seu problema, uma vez que h demora na
erupo e/ou ausncias de dentes permanentes. No presente caso, mltiplos dentes ausentes foram a razo para o
paciente visitar o dentista. CONCLUSO: O diagnstico precoce permite a orientao adequada para o tratamento,
visando melhor qualidade de vida ao paciente.
[K]
Palavras-chave: Displasia cleido-craniana. Clavculas aplsticas. Erupo retardada. Dentes supranumerrios.
Spina bifida.
Figure 3 - Orthopantomogram
which were impacted. Two supernumerary teeth
were present in maxilla and mandible respectively. The postero-anterior view and laleral
A deep high arched narrow palate was present skull view showed a brachycephalic skull, notice-
(Figure 2). able frontal, parietal and occipital eminences. The
The oral hygiene was generally poor. The anterior and posterior fontanelles were widely opened
oral mucosa and tongue were otherwise normal. with the suture shadows excessively prominent. The
Family history revealed similar signs in the mother; maxilla and zygomatic bones were relatively small
his spouse and offspring were normal. Based on with underdeveloped frontal and maxillary air sinus
familiar history and clinical features, a provisional (Figures 4, 5).
diagnosis of CCD was given. A differential diag- X-ray of the chest showed absence of
nosis of Noonan syndrome, Turners syndrome, both clavicles and narrowing of the thoracic cage.
rickets, osteogenesis imperfecta, and Gardners syn- Vertical radiolucencies noted in the spinous process
drome was given. The patient was subjected to of C7 to T 3 vertebrae suggestive of spina bifida
radiographic examination. Orthopantomogram (Figure 6).
Received: 01/11/2009
Recebido: 11/01/2009
Accepted: 03/03/2010
Aceito: 03/03/2010