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 |