Biomedical subjects

Karin Vargervik

Publications and source records attributed to Karin Vargervik.

5 recordsLinked to original sources

PubMed2006

Using implants for the growing child.

The use of implants for the growing child is not routinely recommended. The concerns about placing implants for patients in this age group are related to jaw growth. However, not all children with missing teeth need to wait for growth to be completed prior to implant placement. In this paper, the authors will discuss the indications for implant placement in the growing child. The decision for implant placement is based not only on growth, but also the number and location of the missing teeth.

Adolescent↗

PubMed2005

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.

We report on a new patient with clinical findings consistent with acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. The child had sparse hair, extensive freckling, lacrimal duct stenosis, oligodontia, dystrophic nails, reduced sweating, and bilateral athelia. Examination of his hands showed ulnar ray hypoplasia with bilateral fifth finger brachydactyly and camptodactyly. He also had surgical repair of an imperforate anus. Mutation analysis of TP63 showed a single nucleotide substitution, c.G518A, predicting a novel missense mutation, p.V114M in exon 4. This is the third mutation to be reported in TP63 in ADULT syndrome.

Abnormalities, Multiple↗

PubMed2005

Case reports of oculofaciocardiodental syndrome with unusual dental findings.

We report on two new cases of oculofaciocardiodental (OFCD) syndrome characterized by cataracts, microphthalmia, facial anomalies, cleft palate, cardiac septal defects, and canine radiculomegaly. We also review previous patients. The syndrome is caused by mutations in the BCOR gene, which maps to Xp11.4. Mutational analysis in one of our patients showed a deletion of a single nucleotide, c.2613delC, predicting a novel frameshift mutation with a premature stop codon, p.F871Lfs8X.

Abnormalities, Multiple↗

PubMed2005

Velocardiofacial syndrome with single central incisor.

Three siblings and their mother are reported who all had cytogenetically proven velocardiofacial syndrome (VCFS). One boy had normal dental and craniofacial findings, except for an increased cranial base angle. His sister had only one central incisor in the maxilla. One central incisor had also been missing in the primary dentition. She had no labial frenulum present. Cephalometry showed a small maxillary unit length indicating mild maxillary hypoplasia, an increased anterior face height, steep mandibular plane angle, retruded chin, and a large cranial base angle. Dental measurements showed retroclined lower incisors and increased interincisal angle. A second sister had a cleft of the secondary palate. All permanent teeth were present with the exception of a missing central incisor in the lower jaw: the single lower central incisor was situated in the midline. Her cephalometry showed similar findings as in her sister. All three siblings required palate surgery for speech. Mother was not available for detailed dental and other oral investigations. A single maxillary central incisor has previously been reported in VCFS, but to our knowledge a single central incisor in the mandible has not been reported previously in this entity.

Abnormalities, Multiple↗

PubMed2005

Hypoplasia and hypodontia in Van der Woude syndrome.

OBJECTIVE: The purpose of this study was (1) to assess maxillary development in cleft individuals with Van der Woude syndrome (VWS) and (2) to compare hypodontia in VWS and nonsyndromic cleft matched controls. DESIGN AND SETTING: Retrospective case-control study from the Center for Craniofacial Anomalies, University of California, San Francisco, California. PATIENTS AND PARTICIPANTS: The sample consisted of 15 individuals with Van der Woude syndrome and 15 nonsyndromic cleft lip and/or palate controls paired for age, gender, and cleft type in the age range of 5 to 13 years. MAIN OUTCOME MEASURES: Cephalograms were digitized, and 31 linear and angular measurements were made. Serial panoramic radiographs were used to assess the presence or absence of permanent teeth. RESULTS: The maxillary sagittal position represented by midface length (Co-A) was significantly shorter in the Van der Woude syndrome subjects than in the matched controls (p = .031), suggesting a trend towards greater maxillary hypoplasia, particularly in Van der Woude syndrome with bilateral cleft lip and/ or palate. Measurements indicating sagittal jaw relationship (ANB angle and the Wits) were significantly smaller in the children with Van der Woude syndrome than in matched controls (p = .008 and p = .006). A significantly larger number of individuals with Van der Woude syndrome than matched controls had missing teeth (p = .014). The mandibular second premolar was missing more frequently in children with Van der Woude syndrome than in the matched controls (p = .031). The differences concerning both maxillary hypoplasia and hypodontia were most marked in the more severe cleft type, represented by bilateral cleft lip and/or palate. CONCLUSIONS: Based on these findings, the expectation is that there will be maxillary hypoplasia and hypodontia of greater severity in Van der Woude syndrome than in nonsyndromic clefts.

Adolescent↗