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Table 1 Clinical data for patients with typical features of CdLS and TS

From: Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

Clinical findings CdLS and 45,X/46,XX mosaicism[14] CdLS ( NIPBL mutation) and 45,X/46,XX mosaicism [this paper] CdLS ( SMC1A mutation) and 45,X/46,XX mosaicism[15]
   TS CdLS TS CdLS TS CdLS
Birth parameters and growth
 Birth weight < 10th centile - + - + - -
 Length at birth < 10th centile - + - + N/A N/A
 Growth: Short stature + + + + + +
Craniofacial features
Eye Synophrys - + - + - +
  Arched eyebrows - + - + - +
  Long eyelashes - + - + - -
Nose Depressed nasal bridge - + - + - -
  Anteverted nares - + - + - -
Philtrum Long - + - + - +
  Prominent - + - + - -
  Smooth - + - + - +
Mouth Thin upper lip - + - + - +
  Down-slanting corners - + - + - -
  Widely-spaced teeth - + - - - +
  Micrognathia + + + + + +
Ear Low-set + + + + - -
  Posteriorly rotated - + - + - -
Neck Low posterior hairline + + + + - -
  Short neck + + + + + +
  Webbed neck + - + - - -
Skull Microbrachycephaly - + - + - +
  Bitemporal narrowing distance - + - + - +
  Skull asymmetry with right-sided flattening - - - - - +
Neurology and cognitive profile
 Neurological involvement: Hypertonia - + - + N/A N/A
 Cognitive: Mental retardation N/A N/A - + - +
 Verbal and motor developmental delay
 Speech delay + + + + + +
 Language delay - + - + - +
 Developmental delay - + - + - +
Musculoskeletal system
 Small hands and/or feet - + - + - +
 5th finger clinodactyly - + - + N/A N/A
 Syndactyly 3rd-4th fingers - - - - - +
 Proximally placed thumb - + - + - +
 Single palmar crease - - - + N/A N/A
 Wide Space 1st 2nd toes - - - - - +
 Bilateral cubitus valgus - - + - N/A N/A
 Limited elbow extension - + - + N/A N/A
 Hip dislocation - - + + N/A N/A
 Short sternum - - + - N/A N/A
 Scoliosis - - - - + +
 Bone age retardation - - + - N/A N/A
 Broad chest with widely-spaced nipples + - + - + -
Ophthalmologic findings
 Glaucoma - - + + N/A N/A
 Retinopathy N/A N/A - + N/A N/A
 Myopia N/A N/A + + N/A N/A
ENT manifestations
 Sensorineural hearing loss N/A N/A + + N/A N/A
Skin and nails
 Lymphedema of the feet - - + - - -
 Hirsutism - + - + - -
 Cutis marmorata - - - + N/A N/A
 Small and hypoplastic nails + - + - - -
 Hyperconvexed nails - - - - + -
Cardiac system
 ASD, VSD and PS - - - + - -
 Tetralogy of Fallot - - - - - +
Gastrointestinal system
 GERD + + + + + +
 Gastrointestinal malrotation - - - - - +
 Constipation - - - + - +
 Feeding problems - - + + + +
 Poor sucking and swallowing reflexes + - + - N/A N/A
  1. (+) Present; (−) Not present; N/A: Not available; OFC: Occipito-Frontal Circumference; ENT: Ear-Nose-Throat; ASV: Atrial Septal Defect; VSD: Ventricular Septal Defect; PS: Pulmonary Stenosis; GERD: Gastroesophageal Reflux Disease.