Clouston syndrome (hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia and palmoplantar hyperkeratosis. Clouston syndrome is transmitted as an autosomal dominant trait and caused by mutations in the GJB6 gene (13q12), encoding the gap junction protein connexin 30 (C × 30). At present, there is no treatment for the disease and management is purely su...

The cranial sutures have delayed ossification and fontanelles remain open for a long time and as a result brachycephaly occurs with frontal and parietal bossing and thin calvarium, facial bones are hypoplastic, small beaked nose with receeding, hypoplastic mouth and chin. Low-set ears, thin and light hair, hypotrichosis of scalp, eyebrows and eye lashes, micro-opthalmia with congenital cataract...

Congenitally missing teeth are the most commonly seen dental anomalies. Agenesis of the permanent first molar has the least frequency of all the tooth types, and it usually occurs in association with oligodontia or anodontia. Thus, agenesis of the bilateral maxillary first permanent molar is an extremely rare occurrence, and no such case has been reported in ethnic Saudi Arabian population. We ...

OBJECTIVE The purpose of this article is to discuss the general and oral findings in a patient with Fahr's disease, an uncommon disorder. CLINICAL PRESENTATION AND INTERVENTION A patient presented with the complaint of partial anodontia, but further clinical and radiographic investigations showed a myriad of findings including stunted growth, osteoporosis and pathological calcifications. Oral...

We report a rare case of osteoglophonic dysplasia affecting father and daughter. Osteoglophonic dysplasia is a very rare skeletal dysplasia with craniosynostosis, multiple radiolucencies of bone and clinical anodontia. It is an autosomal dominant disorder characterised by short stature. The affected children have normal intelligence. Close association with missense mutation of fibroblast growth...

Ectodermal dysplasia is a hereditary disease characterized by congenital dysplasia of one or more ectodermal structure and other accessory appendages. The oral manifestations are anodontia and poor bony foundation which impairs both esthetic as well as the masticatory function. The prosthodontic management of patients with such dysplastic condition necessitates a multidisciplinary approach. Thi...

A 7-year-old male, described in the case report, exhibited many of the manifestations of ectodermal dysplasia as well as behavioral problems. The treatment to improve his appearance and oral function included a removable prosthesis. The results were significant improvements in speech, masticatory function, and facial esthetics, contributing to the development of normal dietary habits, and the i...