Campomelic dysplasia

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

Tracheobronchomalacia

Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.


合計: 2

                       


（表示件数）
PMID (PMCID)
29695406
(5983176)
 FEMALE Infant, Newborn
A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9.
Antwi P, Hong CS, Duran D, Jin SC, Dong W, DiLuna M, Kahle KT.
Cold Spring Harb Mol Case Stud. 2018;4(3):.
Campomelic dysplasia is a rare skeletal dysplasia characterized by Pierre Robin sequence, craniofacial dysmorphism, shortening and angulation of long bones, tracheobronchomalacia, and occasionally sex reversal.
8090613
 FEMALE Infant, Newborn
Management of severe congenital tracheobronchomalacia by continuous positive airway pressure and tidal breathing flow-volume loop analysis.
Reiterer F, Eber E, Zach MS, Muller W.
Pediatr Pulmonol. 1994;17(6):401-3.
We report on a now 9-month-old infant with severe tracheobronchomalacia associated with campomelic dysplasia.