Patient Overview : 14

Frequency of all clinical findings

Percentage Cases
Gender    
Male 57.1% 8/14
Female 42.9% 6/14
General    
Birth Length abnormalities 47.1% 8/17
< P3 : Birth length less than 3rd percentile 47.1% 8/17
Birth Weight abnormalities 64.7% 11/17
< P3 : Small for gestational age 64.7% 11/17
Birth Head circumference abnormalities 29.4% 5/17
< P3 : Congenital microcephaly 29.4% 5/17
Current Height abnormalities 100.0% 17/17
< P3 : Short stature 100.0% 17/17
Current Weight abnormalities 94.1% 16/17
< P3 : Decreased body weight 88.2% 15/17
> P98 : Increased body weight 5.9% 1/17
Current Head circumference abnormalities 41.2% 7/17
< P3 : Microcephaly 41.2% 7/17
Neurology    
Neurological abnormalities 42.9% 3/7
Spinal cord compression 42.9% 3/7
Brain abnormality 66.7% 6/9
Ventriculomegaly 55.6% 5/9
Syringomyelia 11.1% 1/9
Facial abnormalities    
Abnormality of the eye 100.0% 14/14
Proptosis 92.9% 13/14
Blue sclerae 57.1% 8/14
Abnormality of the nose 64.3% 9/14
Narrow nasal bridge 57.1% 8/14
Convex nasal ridge 42.9% 6/14
Abnormality of the mouth 85.7% 12/14
Micrognathia 85.7% 12/14
Visual and hearing impairments    
Abnormal hearing 83.3% 10/12
Hearing impairment 33.3% 4/12
Bilateral conductive hearing impairment 25.0% 3/12
Bilateral sensorineural hearing impairment 16.7% 2/12
Conductive hearing impairment 8.3% 1/12
Abnormal vision 91.7% 11/12
Cataract 91.7% 11/12
Abnormality of retinal pigmentation 50.0% 6/12
Skeleton    
Skeletal abnormalities 100.0% 14/14
Aplasia/Hypoplasia of the cervical spine 92.9% 13/14
Enlarged epiphyses 92.9% 13/14
Overtubulated long bones 92.9% 13/14
Short metacarpal 92.9% 13/14
Short metatarsal 92.9% 13/14
Short phalanx of finger 92.9% 13/14
Cone-shaped epiphyses of the phalanges of the hand 85.7% 12/14
Coxa valga 85.7% 12/14
Flared metaphysis 85.7% 12/14
Short distal phalanx of finger 85.7% 12/14
Wide anterior fontanel 85.7% 12/14
Irregular vertebral endplates 78.6% 11/14
Pseudoepiphyses of the metacarpals 78.6% 11/14
Dysplastic radii 71.4% 10/14
Talipes equinovarus 71.4% 10/14
Hypoplasia of proximal fibula 64.3% 9/14
Platybasia 64.3% 9/14
Ivory epiphyses of the phalanges of the hand 57.1% 8/14
Abnormality of the lumbar spine 50.0% 7/14
Platyspondyly 42.9% 6/14
Abnormality of the sternum 35.7% 5/14
Madelung deformity 35.7% 5/14
C1-C2 subluxation 21.4% 3/14
Premature osteoarthritis 21.4% 3/14
Cervical platyspondyly 7.1% 1/14
Endocrine / Immunological / Metabolic    
Abnormality of the immune system 84.6% 11/13
Neutropenia 84.6% 11/13