Biomedical subjects

O Karaaslan

Publications and source records attributed to O Karaaslan.

3 recordsLinked to original sources

PubMed2004

Total anonychia congenita: a rare heterogeneic disorder.

Total anonychia congenita is a very rare disorder in which all the finger nails and the toenails are absent without significant bone anomalies. This condition is reported to have an autosomal dominant inheritance pattern. There are a variety of syndromes or conditions associated with anonychia congenita. In this study we present a monozygotic twin with isolated anonychia congenita totals. Interestingly there is no family history of anonychia and this condition seems to be caused by a sporadic mutation.

Bone Diseases↗

PubMed2003

Sporadic familial polydactyly.

Polydactyly is one of the most common congenital deformities of the hands. It can occur as an Isolated disorder, in association with other malformations of the hands or feet, or as part of a syndrome. It can occur sporadically but it can also be inherited with a mainly autosomal dominant inheritance. We present a family with three out of four members of the last generation with no previous history of polydactyly. Although the affected children presented different phenotypes of polydactyly, probably all three cases were the result of the same mutation seen in one of the parents. In addition no syndromic association could be found. Our experience with the management of this family's members is presented and possible etiological factors and treatment modalities are discussed.

Child↗

PubMed2001

Report of two cases with Van der Woude syndrome: a child and her mother.

Report of two cases with Van der Woude syndrome: a child and her mother: Congenital pits of the lower lip are rare malformations. They are closely associated with cleft lip (CL), cleft lip/palate (CL/CP) or isolated cleft palate (CP) and if so this condition is known as Van der Woude syndrome, which is inherited in an autosomal dominant fashion with high penetrance. Two individuals, one with lower lip pits and cleft palate and the other with isolated lower lip pit from the same family are described. Autosomal dominant pattern of inheritance was observed in this family and treatment consisted of complete removal of sinus tracts in one patient. Pathological features of sinus tracts consisted of stratified nonkeratinized squamous epithelium and a lamina propria of dense connective tissue. Importance of genetic counseling is emphasized as at least half of gene carriers have some kind of clefting.

Abnormalities, Multiple↗