Patient Overview : 16

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 56.3% 9/16
Female 43.8% 7/16
Neurology    
Neurological abnormalities 100.0% 16/16
Febrile seizures 62.5% 10/16
Gait disturbance 37.5% 6/16
Global developmental delay 31.3% 5/16
Hypertonia 31.3% 5/16
Epileptic spasms 18.8% 3/16
obsolete Mental retardation, in some 18.8% 3/16
Seizures 18.8% 3/16
Mild receptive language delay 12.5% 2/16
Abnormality of the cerebellar vermis 6.3% 1/16
Absent speech 6.3% 1/16
Aplasia/Hypoplasia of the corpus callosum 6.3% 1/16
Expressive language delay 6.3% 1/16
Severe expressive language delay 6.3% 1/16
Behavioral problems 100.0% 13/13
Autism 53.8% 7/13
Stereotypic behavior 38.5% 5/13
Anxiety 30.8% 4/13
Abnormal fear/anxiety-related behavior 23.1% 3/13
Autistic behavior 23.1% 3/13
Hyperactivity 23.1% 3/13
Sleep disturbance 15.4% 2/13
Abnormal aggressive, impulsive or violent behavior 7.7% 1/13
Apathy 7.7% 1/13
Brain abnormality 57.1% 8/14
Microcephaly 42.9% 6/14
Abnormality of the cerebellar vermis 7.1% 1/14
Aplasia/Hypoplasia of the corpus callosum 7.1% 1/14
Brain atrophy 7.1% 1/14
Dilation of lateral ventricles 7.1% 1/14
Facial abnormalities    
Abnormality of the ear 71.4% 5/7
Abnormality of the auditory canal 14.3% 1/7
Absent earlobe 14.3% 1/7
Anteverted ears 14.3% 1/7
Large fleshy ears 14.3% 1/7
Prominent ear helix 14.3% 1/7
Abnormality of the eye 100.0% 7/7
Deeply set eye 57.1% 4/7
Downslanted palpebral fissures 28.6% 2/7
Long eyelashes 28.6% 2/7
Abnormality of the eye 14.3% 1/7
Hypertelorism 14.3% 1/7
Periorbital fullness 14.3% 1/7
Proptosis 14.3% 1/7
Strabismus 14.3% 1/7
Abnormality of the nose 100.0% 6/6
Prominent nasal bridge 50.0% 3/6
Abnormality of the columella 16.7% 1/6
Narrow nose 16.7% 1/6
Prominent nose 16.7% 1/6
Short philtrum 16.7% 1/6
Abnormality of the mouth 71.4% 5/7
Tented upper lip vermilion 28.6% 2/7
Wide mouth 28.6% 2/7
Abnormality of the teeth 14.3% 1/7
Ankyloglossia 14.3% 1/7
High, narrow palate 14.3% 1/7
Overbite 14.3% 1/7
Visual and hearing impairments    
Abnormal hearing 9.1% 1/11
Hearing impairment 9.1% 1/11
Abnormal vision 27.3% 3/11
Abnormality of vision 9.1% 1/11
Astigmatism 9.1% 1/11
Posterior vitreous detachment 9.1% 1/11
Heart    
Abnormality of the heart 15.4% 2/13
Aortic regurgitation 7.7% 1/13
Thoracic aorta calcification 7.7% 1/13
Ventricular septal defect 7.7% 1/13
Gastrointestinal    
Gastrointestinal abnormalities 26.7% 4/15
Gastroesophageal reflux 13.3% 2/15
Abnormality of the intestine 6.7% 1/15
Feeding difficulties 6.7% 1/15
Urogenital    
Abnormality of the urogenital system 7.7% 1/13
Hydrocele testis 7.7% 1/13
Skeleton    
Skeletal abnormalities 73.3% 11/15
Abnormality of the foot 26.7% 4/15
Long hallux 13.3% 2/15
Pes cavus 13.3% 2/15
Short toe 13.3% 2/15
2-4 toe cutaneous syndactyly 13.3% 2/15
Arachnodactyly 6.7% 1/15
Bowing of the legs 6.7% 1/15
Camptodactyly of toe 6.7% 1/15
Clinodactyly of the 5th toe 6.7% 1/15
Cutaneous finger syndactyly 6.7% 1/15
Exostoses 6.7% 1/15
Hallux valgus 6.7% 1/15
Hyperlordosis 6.7% 1/15
Kyphosis 6.7% 1/15
Osteochondrosis 6.7% 1/15
Pectus excavatum 6.7% 1/15
Scoliosis 6.7% 1/15
Small hand 6.7% 1/15
Spina bifida 6.7% 1/15
2-3 finger syndactyly 6.7% 1/15
2-3 toe syndactyly 6.7% 1/15
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 26.7% 4/15
Delayed eruption of teeth 6.7% 1/15
Eczema 6.7% 1/15
Increased number of teeth 6.7% 1/15
Endocrine / Immunological / Metabolic    
Abnormality of the metabolic system 7.7% 1/13
Gastroesophageal reflux 7.7% 1/13