Patient Overview : 9

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 62.5% 5/8
Female 37.5% 3/8
Neurology    
Neurological abnormalities 100.0% 5/5
Hypertonia 40.0% 2/5
Muscular hypotonia 40.0% 2/5
Abnormal pyramidal signs 20.0% 1/5
Ankle clonus 20.0% 1/5
Brisk reflexes 20.0% 1/5
Gait ataxia 20.0% 1/5
Hyperreflexia 20.0% 1/5
Spasticity 20.0% 1/5
Behavioral problems 100.0% 3/3
Autistic behavior 66.7% 2/3
Hyperactivity 33.3% 1/3
Impulsivity 33.3% 1/3
Self-mutilation 33.3% 1/3
Brain abnormality 100.0% 4/4
Abnormality of the cerebral white matter 25.0% 1/4
Cerebral white matter atrophy 25.0% 1/4
Diffuse white matter abnormalities 25.0% 1/4
Ventriculomegaly 25.0% 1/4
Facial abnormalities    
Abnormality of the ear 71.4% 5/7
Macrotia 42.9% 3/7
Low-set ears 14.3% 1/7
Abnormality of the eye 42.9% 3/7
Hypertelorism 42.9% 3/7
Abnormality of the nose 57.1% 4/7
Bulbous nose 42.9% 3/7
Prominent nasolabial fold 42.9% 3/7
Prominent nose 14.3% 1/7
Abnormality of the mouth 71.4% 5/7
Micrognathia 28.6% 2/7
Thick vermilion border 28.6% 2/7
Hypodontia 14.3% 1/7
Long philtrum 14.3% 1/7
Smooth philtrum 14.3% 1/7
Thin upper lip vermilion 14.3% 1/7
Widely spaced teeth 14.3% 1/7
Visual and hearing impairments    
Abnormal hearing 80.0% 4/5
Bilateral sensorineural hearing impairment 40.0% 2/5
Hearing impairment 20.0% 1/5
Mild neurosensory hearing impairment 20.0% 1/5
Abnormal vision 83.3% 5/6
Cataract 50.0% 3/6
Pigmentary retinopathy 33.3% 2/6
Strabismus 33.3% 2/6
Astigmatism 16.7% 1/6
Congenital cataract 16.7% 1/6
Optic disc pallor 16.7% 1/6
Heart    
Abnormality of the heart 80.0% 4/5
Heart murmur 40.0% 2/5
Persistent left superior vena cava 40.0% 2/5
Ventricular septal defect 40.0% 2/5
Abnormality of the coronary sinus 20.0% 1/5
Cardiomegaly 20.0% 1/5
Patent foramen ovale 20.0% 1/5
Perimembranous ventricular septal defect 20.0% 1/5
Secundum atrial septal defect 20.0% 1/5
Gastrointestinal    
Gastrointestinal abnormalities 33.3% 1/3
Abnormality of the intrahepatic bile duct 33.3% 1/3
Pancreatic hypoplasia 33.3% 1/3
Urogenital    
Abnormality of the urogenital system 50.0% 3/6
Hypospadias 50.0% 3/6
Functional abnormality of the bladder 16.7% 1/6
Hydronephrosis 16.7% 1/6
Urinary retention 16.7% 1/6
Skeleton    
Skeletal abnormalities 50.0% 1/2
Short long bone 50.0% 1/2
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 100.0% 4/4
Hyperpigmentation of the skin 75.0% 3/4
Dry skin 50.0% 2/4
Eczema 25.0% 1/4