Clinical expression of familial Williams-Beuren syndrome in a Turkish family.
Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability with a typical neurobehavioral profile, cardiovascular anomalies, and occasional infantile hypercalcemia. Majority of cases occur sporadically, and only a few cases of familial WBS have been reported. Although pre- and post-natal growth retardation is a common clinical feature of the syndrome, growth hormone deficiency is detected only in a few patients. To our knowledge, there has only been one report about familial Williams-Beuren syndrome in the Turkish population. Here, we report on the three molecular cytogenetically confirmed familial Williams-Beuren syndromes detected in a family with familial short stature. The father, daughter, and son analyzed with clinical and laboratory findings, and reasons of the short stature in Williams-Beuren syndrome are discussed through the literature.
Mesut
M
Parlak
Banu Güzel
BG
Nur
Ercan
E
Mıhçı
Erdem
E
Durmaz
Sibel Berker
SB
Karaüzüm
Sema
S
Akcurin
İffet
İ
Bircan
D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D014421:Turkey; D018980:Williams Syndrome / Q000175:diagnosis* / Q000473:pathology