Patient Overview : 6

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 66.7% 4/6
Female 33.3% 2/6
Neurology    
Neurological abnormalities 100.0% 2/2
Absent speech 100.0% 2/2
Distal amyotrophy 100.0% 2/2
Paraplegia/paraparesis 100.0% 2/2
Seizures 100.0% 2/2
Severe global developmental delay 100.0% 2/2
Spastic tetraplegia 100.0% 2/2
Brain abnormality 50.0% 1/2
Cerebellar hypoplasia 50.0% 1/2
Dilated fourth ventricle 50.0% 1/2
Facial abnormalities    
Abnormality of the ear 66.7% 2/3
Low-set ears 66.7% 2/3
Abnormality of the eye 33.3% 1/3
Hypertelorism 33.3% 1/3
Abnormality of the nose 33.3% 1/3
Anteverted nares 33.3% 1/3
Depressed nasal bridge 33.3% 1/3
Abnormality of the mouth 33.3% 1/3
Thin upper lip vermilion 33.3% 1/3
Heart    
Abnormality of the heart 100.0% 1/1
Abnormality of the diaphragm 100.0% 1/1
Skeleton    
Skeletal abnormalities 100.0% 6/6
Arthrogryposis multiplex congenita 66.7% 4/6
Flexion contracture 66.7% 4/6
Flexion contracture of finger 50.0% 3/6
Adducted thumb 33.3% 2/6
Limitation of knee mobility 33.3% 2/6
Talipes equinovarus 33.3% 2/6
Wrist flexion contracture 33.3% 2/6
Abnormality of muscle size 16.7% 1/6
Bilateral talipes equinovarus 16.7% 1/6
Camptodactyly 16.7% 1/6
Centrally nucleated skeletal muscle fibers 16.7% 1/6
Contractures of the joints of the upper limbs 16.7% 1/6
Limited elbow flexion/extension 16.7% 1/6
Restricted chest movement 16.7% 1/6
Talipes valgus 16.7% 1/6
Thoracic kyphoscoliosis 16.7% 1/6
Ulnar deviation of the hand or of fingers of the hand 16.7% 1/6
Upper limb muscle hypoplasia 16.7% 1/6
Vertebral segmentation defect 16.7% 1/6
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 100.0% 2/2
Abnormal palmar dermal ridges 50.0% 1/2
Axillary pterygia 50.0% 1/2