Short-rib thoracic dysplasia 3 | Saldino-Noonan sendromu |

Short-rib thoracic dysplasia 3 (Saldino-Noonan sendromu)

Kalıtsal - AD/AR

Gelişme geriliği

Yarık damak

Dilde hamartoma

Toraks küçük

Akciğer hipoplazisi

Kostalar kısa

Klavikula malformasyonu

Displastik ve polikistik böbrekler

Genital organlarda malformasyonlar

Enkondral ossifikasyon bozuklukları

Uzun kemikler kısa

Tibia agenezi

Skolyoz

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