Patient Overview : 4

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.0% 2/4
Female 50.0% 2/4
General    
Birth Length abnormalities 25.0% 1/4
< P3 : Birth length less than 3rd percentile 25.0% 1/4
Birth Weight abnormalities 25.0% 1/4
< P3 : Small for gestational age 25.0% 1/4
Birth Head circumference abnormalities 0% 0/4
Current Height abnormalities 25.0% 1/4
< P3 : Short stature 25.0% 1/4
Current Weight abnormalities 25.0% 1/4
< P3 : Decreased body weight 25.0% 1/4
Current Head circumference abnormalities 75.0% 3/4
< P3 : Microcephaly 75.0% 3/4
Neurology    
Neurological abnormalities 50.0% 2/4
Dysphagia 25.0% 1/4
Muscular hypotonia 25.0% 1/4
Seizures 25.0% 1/4
Spastic tetraparesis 25.0% 1/4
Behavioral problems 25.0% 1/4
Bruxism 25.0% 1/4
Drooling 25.0% 1/4
Brain abnormality 100.0% 2/2
Abnormality of the cerebral white matter 50.0% 1/2
Cerebellar atrophy 50.0% 1/2
Delayed myelination 50.0% 1/2
Facial abnormalities    
Abnormality of the ear 50.0% 2/4
Low-set, posteriorly rotated ears 25.0% 1/4
Posteriorly rotated ears 25.0% 1/4
Abnormality of the eye 100.0% 4/4
Deeply set eye 50.0% 2/4
Epicanthus 50.0% 2/4
Infra-orbital crease 50.0% 2/4
Infra-orbital fold 25.0% 1/4
Keratoconus 25.0% 1/4
Stellate iris 25.0% 1/4
Abnormality of the nose 75.0% 3/4
Anteverted nares 75.0% 3/4
Depressed nasal bridge 25.0% 1/4
Short nose 25.0% 1/4
Abnormality of the mouth 100.0% 4/4
Exaggerated cupid's bow 100.0% 4/4
Wide mouth 100.0% 4/4
Thick vermilion border 50.0% 2/4
Delayed eruption of permanent teeth 25.0% 1/4
Visual and hearing impairments    
Abnormal vision 25.0% 1/4
Strabismus 25.0% 1/4
Heart    
Abnormality of the heart 25.0% 1/4
Perimembranous ventricular septal defect 25.0% 1/4
Gastrointestinal    
Gastrointestinal abnormalities 50.0% 2/4
Feeding difficulties 50.0% 2/4
Constipation 25.0% 1/4
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 25.0% 1/4
Toenail dysplasia 25.0% 1/4