D

 

Diastrofik displazi (diastrophic dysplasia)

Kalıtsal - AR

Gelişme geriliği

Glabella’da hemangioma

Büyük kulak kepçesi

İşitme sorunları

Yarık damak

Larinks stenozu (ses kaba)

Kifoskolyoz

Servikal kifoz

Ekstremite anomalileri

  • Makitie O, Kaitila I. Growth in diastrophic dysplasia. Journal of Pediatrics, 130: 641-646, 1997

  • Jung C, Sohn C, Sergi C. Prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity. Prenatal Diagnois, 18: 378-383, 1998

  • Bonafe L, Hastbacka J, de la Chapelle A, et al. A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. (Letter) Journal of Medical Genetics,  45: 827-831, 2008