A family presenting Goltz syndrome (focal dermal hypoplasia) in three generations.
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.
Seven
M
M
Genetic and Teratology Research Center (GETAM), Istanbul University.
Suyugül
Z
Z
Yüksel
A
A
Geçkinli
B
B
Hacihanefioğlu
S
S
Cenani
A
A
D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000235:genetics* / Q000473:pathology; D008040:Genetic Linkage; D006801:Humans; D010375:Pedigree; D014960:X Chromosome