1/4. Dental management of oculodentodigital dysplasia: report of case.Oculodentodigital dysplasia is a rare autosomal dominant syndrome characterized by typical facies and certain anomalies of the eyes, dentition and digits. This report describes the case of a 2.5-year-old white male with oculodentodigital dysplasia and his comprehensive dental treatment. Aggressive treatment to maintain the integrity of the patient's primary dentition was provided. The characteristic physical and genetic findings of oculodentodigital dysplasia were also described.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
2/4. Oculodentodigital dysplasia.A case of oculodentodigital dysplasia in a 35-year-old man is reported. The diagnosis was based on the characteristic facies, microcornea, and dental dysplasia. Digital findings, although consistent with previous reports, were somewhat atypical, with almost complete aplasia of the right foot present. Although the patient appeared to be mentally retarded, it is not clear whether this can be considered a component of the syndrome or merely a coincidental finding.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
3/4. A previously undescribed condition: tricho-odonto-onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias.An apparently hitherto undescribed ectodermal dysplasia/malformation syndrome is presented. The patient, the last son in an outbred sibship of four males, presents scalp hypotrichosis, aplasia cutis congenita of the scalp, dental abnormalities, onychodyplasia, dry skin with hypochromic and atrophic (poikiloderma-like) spots with vicarious (marginal) hyperchromia, unusual facies, asymmetrical skull, absent right nipple, irregular areolae, palmar keratosis, dermatoglyphic alterations, syndactyly, clinodactyly, phalangeal aplasias and hypoplasias, right leukoma, abnormal EEG, and other findings. The aetiology is unknown. A review of seventeen ectodermal dysplasias is presented for different diagnosis.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
4/4. Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.We report four children with unusual facial features including severe blepharophimosis, ptosis, and a distinctive nose with a broad flat tip and a depressed bridge. All four patients were markedly hypotonic and had severe feeding difficulties and developmental delay. Two had congenital heart defects and all three who survived had hypoplastic teeth. Both of the male patients had cryptorchidism. These four children have a distinctive syndrome which is similar to that reported by Biesecker (J Med Genet (1991) 28: 131-134).- - - - - - - - - - ranking = 4keywords = facies (Clic here for more details about this article) |