From: Sacral agenesis: a pilot whole exome sequencing and copy number study
Subjects | Sacral agenesisa and vertebral malformations | Ribs/Limbs anomalies | Genitourinary | Neural tube | ARM | Cardiac | Other | Maternal phenotype |
---|---|---|---|---|---|---|---|---|
CR5/M | CRS | Additional 13th right rib | Â | Â | Â | Â | CPT (II) carrier | CPT (II) deficiency |
CR17/F | CRS Type II | Â | Hydronephrosis Hydroureter Bladder-exstrophy | Lipoma Low-lying conus medullaris | Â | Â | Omphalocele Twisted teeth | Diabetes type I |
CR41/F | CRS Type I Deformed T7-T8-T9 | Fusion of 5th and 6thleft ribs Additional 13th left rib Club feet | Incontinence | Lipoma Blunt ending conus medullaris (T11) | Â | Pulmonary vein atresia Inter-ventricular septal defect | Congenital hip dislocation. Motor delay. | Â |
CR46/M | CRS Type II Lumbar kyphosis | Club feet | Â | Â | Anal Stenosis | Intra-ventricular septal defect | Congenital bilateral hip dislocation. Short neck. | Hydrocephalus |
CURR20/F | CRS Type V | Â | Â | Â | Anal Stenosis | Â | Teratoma | Â |