Patient Overview : 13

Frequency of all clinical findings

Percentage Cases
Gender    
Male 46.2% 6/13
Female 53.8% 7/13
Neurology    
Neurological abnormalities 25.0% 3/12
Generalized hypotonia 25.0% 3/12
Behavioral problems 9.1% 1/11
Anxiety 9.1% 1/11
Shyness 9.1% 1/11
Facial abnormalities    
Abnormality of the ear 61.5% 8/13
Low-set ears 7.7% 1/13
Low-set, posteriorly rotated ears 53.8% 7/13
Abnormality of the eye 23.1% 3/13
Downslanted palpebral fissures 23.1% 3/13
Abnormality of the nose 100.0% 13/13
Short nose 100.0% 13/13
Anteverted nares 100.0% 13/13
Long philtrum 92.3% 12/13
Abnormality of the mouth 91.7% 11/12
Thin upper lip vermilion 91.7% 11/12
Everted lower lip vermilion 25.0% 3/12
Dental crowding 50.0% 6/12
High palate 50.0% 6/12
Anterior open bite 41.7% 5/12
Bifid uvula 8.3% 1/12
Visual and hearing impairments    
Abnormal hearing 33.3% 4/12
Conductive hearing impairment 33.3% 4/12
Cholesteatoma 8.3% 1/12
Heart    
Abnormality of the heart 70.0% 7/10
Transposition of the great arteries 20.0% 2/10
Pulmonic stenosis 10.0% 1/10
Ebstein's anomaly of the tricuspid valve 10.0% 1/10
Wolff-Parkinson-White syndrome 10.0% 1/10
Perimembranous ventricular septal defect 10.0% 1/10
Paroxysmal supraventricular tachycardia 10.0% 1/10
Palpitations 10.0% 1/10
Skeleton    
Skeletal abnormalities 92.3% 12/13
11 pairs of ribs 61.5% 8/13
Mild short stature 7.7% 1/13
Hypoplastic ilia 7.7% 1/13
Prominent sternum 15.4% 2/13
Clinodactyly of the 5th finger 30.8% 4/13
Short proximal phalanx of the 5th finger 23.1% 3/13
Delayed skeletal maturation 7.7% 1/13
Pseudoepiphyses of the metacarpals 7.7% 1/13
Spondylolisthesis at L5-S1 23.1% 3/13
Thoracic scoliosis 7.7% 1/13
Hypoplastic scapulae 7.7% 1/13
Sandal gap 61.5% 8/13
Limited pronation/supination of forearm 15.4% 2/13
Small epiphyses of the distal phalanges of the hand 7.7% 1/13
Aplasia/Hypoplasia of the distal phalanges of the hand 7.7% 1/13
Osteopenia 7.7% 1/13
Vertebral clefting 15.4% 2/13
Spina bifida occulta 7.7% 1/13
Fusion of midphalangeal joints 7.7% 1/13
Pectus excavatum 15.4% 2/13
Single interphalangeal crease of fifth finger 7.7% 1/13
Short 5th finger 7.7% 1/13
Cortical thickening of long bone diaphyses 7.7% 1/13
Short toe 7.7% 1/13
Short metacarpal 7.7% 1/13
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 25.0% 3/12
Toenail dysplasia 25.0% 3/12
Prominent fingertip pads 8.3% 1/12
Deep longitudinal plantar crease 8.3% 1/12