Patient Overview : 3

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 33.3% 1/3
Female 66.7% 2/3
General    
Birth Length abnormalities 33.3% 1/3
< P3 : Birth length less than 3rd percentile 33.3% 1/3
Birth Weight abnormalities 33.3% 1/3
< P3 : Small for gestational age 33.3% 1/3
Birth Head circumference abnormalities 33.3% 1/3
< P3 : Congenital microcephaly 33.3% 1/3
Current Height abnormalities 100.0% 3/3
< P3 : Short stature 100.0% 3/3
Current Weight abnormalities 33.3% 1/3
< P3 : Decreased body weight 33.3% 1/3
Current Head circumference abnormalities 66.7% 2/3
< P3 : Microcephaly 66.7% 2/3
Neurology    
Neurological abnormalities 33.3% 1/3
Mild global developmental delay 33.3% 1/3
Behavioral problems 66.7% 2/3
Attention deficit hyperactivity disorder 33.3% 1/3
Autistic behavior 33.3% 1/3
Obsessive-compulsive behavior 33.3% 1/3
Brain abnormality 100.0% 3/3
Abnormality of the subarachnoid space 33.3% 1/3
Aplasia/Hypoplasia of the corpus callosum 33.3% 1/3
Delayed myelination 33.3% 1/3
Dilation of lateral ventricles 33.3% 1/3
Dysplastic corpus callosum 33.3% 1/3
Polymicrogyria 33.3% 1/3
Facial abnormalities    
Abnormality of the ear 66.7% 2/3
Anteverted ears 33.3% 1/3
Prominent crus of helix 33.3% 1/3
Abnormality of the eye 100.0% 3/3
Upslanted palpebral fissure 100.0% 3/3
Blepharophimosis 33.3% 1/3
Epicanthus 33.3% 1/3
Hypermetropia 33.3% 1/3
Abnormality of the nose 100.0% 3/3
Abnormality of the nasal tip 33.3% 1/3
Abnormality of the columella 33.3% 1/3
Anteverted nares 33.3% 1/3
Broad columella 33.3% 1/3
Overhanging nasal tip 33.3% 1/3
Prominent nasal tip 33.3% 1/3
Thin anteverted nares 33.3% 1/3
Underdeveloped nasal alae 33.3% 1/3
Abnormality of the mouth 100.0% 3/3
Everted lower lip vermilion 33.3% 1/3
Long philtrum 33.3% 1/3
Pointed chin 33.3% 1/3
Smooth philtrum 33.3% 1/3
Thick lower lip vermilion 33.3% 1/3
Visual and hearing impairments    
Abnormal hearing 33.3% 1/3
Childhood onset sensorineural hearing impairment 33.3% 1/3
Abnormal vision 33.3% 1/3
Abducens palsy 33.3% 1/3
Heart    
Abnormality of the heart 50.0% 1/2
Patent foramen ovale 50.0% 1/2
Persistent left superior vena cava 50.0% 1/2
Urogenital    
Abnormality of the urogenital system 50.0% 1/2
Hydrocele testis 50.0% 1/2
Skeleton    
Skeletal abnormalities 66.7% 2/3
Clinodactyly of the 5th finger 66.7% 2/3
Abnormality of the thumb 33.3% 1/3
Osteoporosis of vertebrae 33.3% 1/3
Pes planus 33.3% 1/3
Single transverse palmar crease 33.3% 1/3
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 66.7% 2/3
Cutis marmorata 33.3% 1/3
Digital flexor tenosynovitis 33.3% 1/3
Hypoplastic fifth toenail 33.3% 1/3
Toenail dysplasia 33.3% 1/3