Short-rib thoracic dysplasia 18

Kalıtsal - AR

Gelişme geriliği

Boyunda kistik higroma

Dolikosefali

Hipertelorizm

Mikrognati

Üst dudak maksillaya yapışık

Akciğer hipoplazisi

Genital sistem anomalileri

Pelvis malformasyonları

Kostalar kısa

Kosta eksikliği

Karaciğer ve pankreas anomalileri

Polikistik böbrekler

Renal malformasyonlar

Uzun kemikler kısa ve deforme

Pelvis anomalileri

Parmak anomalileri

Elçioğlu NH, Hall CM. Diagnostic dilemmas in the short rib-polydactyly syndrome group. American Journal of Medical Genetics, 111: 392-400, 2002
Dagoneau N, Goulet M, Genevieve D, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. American Journal of Human Genetics, 84: 706-711, 2009
Huber C, Cormier-Daire V. Ciliary disorder of the skeleton. American Journal of Medical Genetics, 160C: 165-174, 2012
Schmidts M, Vodopiutz J, Christou-Savina S, et al. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 93: 932-944, 2013