phenylephrine-hydrochloride and Dental-Enamel-Hypoplasia

Williams-Beuren syndrome is a rare congenital disorder involving the cardiovascular system, mental retardation, distinctive facial features, and tooth anomalies. The aim of the present report is to show a 10-year-old girl with Williams-Beuren syndrome, her general and orofacial clinical characteristics and the dental management.

Topics: Child; Craniofacial Abnormalities; Dental Enamel Hypoplasia; Female; Humans; Hypertelorism; Lip; Malocclusion; Nose; Retrognathia; Tooth Abnormalities; Williams Syndrome

To report a case of oculodentodigital dysplasia syndrome (ODDD) with a heterozygous mutation in GJA1 (connexin 43) gene.. A 9-year-old girl visited our hospital complaining of visual disturbances. The patient had microphthalmia, a small nose with hypoplastic alae nasi, and syndactyly. Visual acuity with prescribed glasses improved to 0.5 (1.2) OU 2 months after the first visit. She was satisfied with the new glasses and the improvement in visual acuity. Genomic DNA was extracted from leukocytes of the patient's peripheral blood in accordance with standard procedures, after obtaining parental informed consent. We amplified GJA1 exon 2 from her genomic DNA by the PCR method, and sequenced the product using the dye terminator method.. S5C (c. 13A > T), a novel mutation in exon 2 of GJA1, was found in the patient. The parents had no mutation of GJAI, nor was there any sign of abnormality in other family members. No similar mutation could be found in the 50 genotyped normal subjects in the control group.. A novel GJA1 mutation was detected in a Japanese ODDD patient. Glaucoma complications associated with ODDD have already been reported. Careful long-term monitoring and treatment are also necessary.

Topics: Anterior Chamber; Child; Connexin 43; Dental Enamel Hypoplasia; Exons; Eyeglasses; Female; Humans; Microphthalmos; Nose; Pedigree; Point Mutation; Polymerase Chain Reaction; Syndactyly; Vision Disorders; Visual Acuity

An interesting case of a seven years old boy with a combination of clinical, genetic, radiological, pathologic and dental findings is presented in view of Seckel syndrome literature. General appearance of the patient was characterized by small forehead, posteriorly slanted ears, slightly beaked nose, midfacial hypoplasia very stunted stature with microcephaly. He had borderline mental retardation with normal motor development. Class II dentoskeletal pattern with mild overjet and open bite, congenitally missing permanent teeth, microdontia, enamel hypoplasia, taurodontism and dentinal dysplasia was observed according to the clinical and radiographic examination. In conclusion, Seckel syndrome is not encountered routinely in dental clinics, this case illustrates the importance of dental care in such a rare condition.

Topics: Anodontia; Child; Craniofacial Abnormalities; Dental Enamel Hypoplasia; Dental Pulp Cavity; Dentin Dysplasia; Dwarfism; Ear, External; Forehead; Humans; Intellectual Disability; Male; Malocclusion, Angle Class II; Microcephaly; Nose; Open Bite; Syndrome; Tooth Abnormalities

The clinical and radiographic changes in a case of oculodentodigital syndrome are presented. The characteristic features of this rare developmental disorder, microphthalmus with microcornea and iris anomalies, hypertelorism, thin nose with hypoplastic alae and anteverted nostrils, syndactyly with camptodactyly and clinodactyly of the fourth and fifth fingers associated with bony anomalies of the middle phalanges of the fifth fingers and toes, were all present. In addition, histological examination of a lateral incisor showed the enamel dysplasia to be due to enamel hypoplasia; the dentine also showed marked hypocalcification. There were widespread pulp denticles and hypercementosis throughout the dentition. Both the patient and his mother had coronoid hypoplasia.

Topics: Adult; Dental Enamel Hypoplasia; Eye Abnormalities; Fingers; Humans; Hypercementosis; Jaw Abnormalities; Male; Nose; Syndrome; Toes; Tooth Calcification

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.

Topics: Adult; Dental Enamel Hypoplasia; Fingers; Humans; Intellectual Disability; Male; Nose; Syndrome; Toes

Three new cases of oculodentodigital (ODD) syndrome are reported. The clinical features are discussed and the development of the characteristic facial appearance is illustrated. Conductive deafness is reported in one of our cases and has been reported in six previous cases. It is suggested that it is a feature of the syndrome which is amenable to treatment.

Topics: Abnormalities, Multiple; Dental Enamel Hypoplasia; Eye Abnormalities; Female; Fingers; Humans; Male; Nose; Syndrome

Topics: Abnormalities, Multiple; Adult; Cephalometry; Child, Preschool; Craniofacial Dysostosis; Dental Enamel Hypoplasia; Diagnosis, Differential; Female; Genetic Diseases, Inborn; Humans; Iris; Male; Nose; Pedigree; Radiography

Topics: Child; Child, Preschool; Congenital Abnormalities; Dental Enamel Hypoplasia; Eye Abnormalities; Female; Humans; Infant; Intellectual Disability; Male; Nose; Orofaciodigital Syndromes

Topics: Cerebral Ventriculography; Child; Dental Enamel Hypoplasia; Electroencephalography; Epilepsy; Eye Abnormalities; Female; Fingers; Glaucoma; Hair; Humans; Intellectual Disability; Iris; Microphthalmos; Nose; Radiography; Toes; Tooth Discoloration

Topics: Adolescent; Calculi; Child; Cuspid; Dental Enamel Hypoplasia; Dental Pulp Calcification; Humans; Incisor; Infant; Infant, Newborn; Maxilla; Molar; Nose; Odontogenic Tumors; Osteomyelitis; Radiography, Dental; Tooth; Tooth Abnormalities; Tooth Abrasion; Tooth Calcification; Tooth, Deciduous