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Table 1 Clinical characteristics of the patients included in this study

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

CRS1 Type II Hemivertebra T7-T8

Additional 13th right rib

    

CPT (II) carrier

CPT (II) deficiency

CR17/F

CRS Type II

 

Hydronephrosis Hydroureter Bladder-exstrophy

Lipoma Low-lying conus medullaris

  

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)

 

Pulmonary vein atresia Inter-ventricular septal defect

Congenital hip dislocation. Motor delay.

 

CR46/M

CRS Type II Lumbar kyphosis

Club feet

  

Anal Stenosis

Intra-ventricular septal defect

Congenital bilateral hip dislocation. Short neck.

Hydrocephalus

CURR20/F

CRS Type V

   

Anal Stenosis

 

Teratoma

 
  1. M male, F female, T thoracic vertebra, S sacral vertebra, ARM anorectal malformations, CPT Carnitine palmitoyl transferase
  2. aAccording to Cama et al. [6] and Pang et al. [7] classification of sacral agenesis