Subject(s)
Diseases in Twins , Waardenburg Syndrome/genetics , Duodenum/abnormalities , Facies , Female , Humans , Infant , Phenotype , Twins, Monozygotic , Waardenburg Syndrome/pathologyABSTRACT
In this report we present three affected females of the same family in three generations. The cases have features of focal dermal hypoplasia (Goltz syndrome). One of the three affected females is the index case and the others are her mother and her grandmother. We performed skin biopsies on them. According to histopathological examinations skin lesions were compatible with Goltz syndrome. These cases exhibited focal dermal hypoplasia (FDH) manifestations including skin, dental and skeletal abnormalities. The affected females were seen in three generations of the same family which pointed to its X-linked dominance.
Subject(s)
Focal Dermal Hypoplasia/genetics , Biopsy , Child, Preschool , Female , Focal Dermal Hypoplasia/pathology , Genetic Linkage , Humans , Pedigree , X ChromosomeABSTRACT
We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome.
