Chondroectodermal dysplasia (Ellis van Creveld syndrome): a report of three cases with review of literature.
(17/59)
Chondroectodermal dysplasia is a rare mesenchymal - ectodermal dysplasia first described in 1940 by Richard W.B. Ellis and Simon van Creveld now known as Ellis van Creveld syndrome. It is also known as Mesvectodermal dysplasia. Majority of cases were characteristically seen in one particular inbred population from the Amish community of Lancaster County, Pennsylvania, U.S.A. The syndrome manifests with several skeletal anomalies, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. Ellis van Creveld syndrome may be differentiated from other chondrodystrophies like achondroplasia, chondroplasia punctata, asphyxiating thorasic dystrophy and Morquio's syndrome. The presence of oral mucosal and dental alterations like notching of the lower alveolar process, fusion of the upper lip with gingival mucosal margin, occasional presence of neonatal teeth, oligodontia and conical shape of anterior teeth will confirm the diagnosis of Ellis van Creveld syndrome and hence its importance to dentists. (+info)
Transsphenoidal encephaloceles are rare and the transsellar variety is the least common. We present a 1-year-old male patient with transsellar transsphenoidal encephalocele which herniated into the oral cavity through the congenital split palate. The patient was operated on using a combined transcranial and transpalatal approach without mortality or permanent morbidity. Clinical findings, imaging reviews, surgical repair techniques and postoperative morbidity are discussed with the relevant literature. We conclude that repair of a transsphenoidal encephalocele should be coordinated between a team of neurosurgeons and otorhinolaryngologists. Our surgical outcome supports a transcranial approach for the treatment of these difficult lesions, with transpalatal dissection and exposure. (+info)
Palatine ridges and tongue position in Turner syndrome subjects.
(19/59)
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
(20/59)
Oral findings of Down syndrome children in Chennai city, India.
(24/59)
PURPOSE: To assess the common oral findings and anomalies of Down syndrome (DS) children in Chennai city, India. MATERIALS AND METHODS: Among the 130 DS children examined, 102 children aged 15 years and below were included in the study. There were 57 male children and 45 female children in the total study sample. A specially prepared case record was used to record the following findings in each child: a brief family and personal history; anomalies of soft tissues, teeth, occlusion, and temporomandibular joint. Age wise and sex wise comparisons of the findings were done. RESULTS: About 97 children (95%) had the habit of regular tooth brushing. Everted lower lip (66%), retained primary teeth (31%), and midface deficiency (76%) were the most commonly seen soft tissue, dental, and occlusion anomalies, respectively. CONCLUSIONS: Midface deficiency was the most common orofacial anomaly seen in these children, followed by everted lower lip and retained primary teeth. Almost all the children had a regular tooth brushing habit. All the children examined were offered free dental treatment in our dental college. (+info)