Clinical Reviews
A school age child with cleidocraneal dysplasia: the importance of early diagnosis
Authors:
Ballón Hurtado AEa, Bascones Martínez MÁb, Lapunzina Badia Pc
aMIR-Medicina de Familia. CS Estrecho de Corea. Servicio Madrileño de Salud, Área 4. Madrid. España.
bPediatra. CS Estrecho de Corea. Servicio Madrileño de Salud, Área 4. Madrid. España.
Correspondence: AE Ballón. Email: amparobahu@hotmail.com
Reference of this article.:
Ballón Hurtado AE, Bascones Martínez MÁ, Lapunzina Badia P. Escolar con displasia cleidocraneal: importancia del diagnóstico precoz. Rev Pediatr Aten Primaria. 2007;9:639-47.
Published in Internet: 31/12/2007
Abstract:
Abstract Cleidocraneal dysplasia (CCD) is an infrequent autosomal dominant disease with high penetrance and variable expression characterized by open skull sutures, hypoplastic or aplastic clavicles and complex dental abnormalities. In this article we report a case of CCD in a school age child with a family history of hearing loss. The child was diagnosed due to the presentation of a macrocephalic and braquicephalic skull with large fontanelle, open sutures and hypertelorism at three months of age. On examination the shoulders have the ability to come together at the midline. Plain radiographs revealed hypoplastic clavicles. The early diagnosis is remarked to avoid unnecessary proceedings as overdosification of vitamin D. On the other hand it is recommended a multidisciplinary team to treat appropriately dental abnormalities. The overall goal is to provide an esthetical appearance of the face and to get a functional occlusion by late adolescence or young adulthood. Intelligence and life expectancy are normal with not serious complications. Key words: Cleidocraneal dysplasia, Hypoplastic clavicles, Dental abnormalities, Cranial abnormalitiesKeywords: Cleidocraneal dysplasia. Hypoplastic clavicles. Dental abnormalities. Cranial.
El contenido íntegro del artículo estará disponible en formato web próximamente. Mientras tanto puede descargarlo en formato Acrobat Reader (PDF).
Comments
This article has no comments yet.