TY - CHAP M1 - Book, Section TI - Diastrophic Dysplasia A1 - Bianchi, Diana W. A1 - Crombleholme, Timothy M. A1 - D'Alton, Mary E. A1 - Malone, Fergal D. PY - 2015 T2 - Fetology: Diagnosis and Management of the Fetal Patient, 2e AB - Key PointsDistinct skeletal dysplasia characterized by disproportionate short stature, clubfoot, cleft palate, “hitch-hiker’s thumb,” and “cauliflower ear.”Results from mutation in the diastrophic dysplasia sulfate transporter gene, DTDST (also known as SLC26A2).More common in individuals of Finnish ancestry due to a founder effect.Sonographic findings are short and curved limbs, micrognathia, clubfeet, abducted and proximally inserted thumbs and great toes, and normal ossification.Associated with normal intelligence and postnatal development.Autosomal recessive condition.Delivery should occur in a tertiary center due to the high incidence of associated airway problems. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - obgyn.mhmedical.com/content.aspx?aid=1106400094 ER -