SMS

Graph and Chart

Patient Overview : 17

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 100.0% 17/17
Female 0% 0/17
Indifferent 0% 0/17
Unknown 0% 0/17
General    
Birth Length abnormalities 17.6% 3/17
< P3 : Birth length less than 3rd percentile 11.8% 2/17
> P98 : Birth length greater than 97th percentile 5.9% 1/17
Birth Weight abnormalities 23.5% 4/17
< P3 : Small for gestational age 23.5% 4/17
Birth Head circumference abnormalities 11.8% 2/17
< P3 : Congenital microcephaly 5.9% 1/17
> P98 : Macrocephaly at birth 5.9% 1/17
Current Height abnormalities 29.4% 5/17
< P3 : Short stature 29.4% 5/17
Current Weight abnormalities 29.4% 5/17
< P3 : Decreased body weight 29.4% 5/17
Current Head circumference abnormalities 11.8% 2/17
< P3 : Microcephaly 11.8% 2/17
Neurology    
Neurological abnormalities 88.2% 15/17
Muscular hypotonia 58.8% 10/17
Seizures 35.3% 6/17
Inability to walk 23.5% 4/17
Developmental regression 17.6% 3/17
Hypsarrhythmia 17.6% 3/17
EEG abnormality 11.8% 2/17
EEG with abnormally slow frequencies 11.8% 2/17
Generalized myoclonic seizures 11.8% 2/17
Generalized seizures 11.8% 2/17
Infantile spasms 11.8% 2/17
Unsteady gait 11.8% 2/17
Absence seizures 5.9% 1/17
Broad-based gait 5.9% 1/17
Difficulty walking 5.9% 1/17
Focal motor seizures 5.9% 1/17
Gait disturbance 5.9% 1/17
Gait ataxia 5.9% 1/17
Generalized tonic-clonic seizures 5.9% 1/17
Nystagmus 5.9% 1/17
Reduced tendon reflexes 5.9% 1/17
Slow pupillary light response 5.9% 1/17
Torticollis 5.9% 1/17
Behavioral problems 92.3% 12/13
Absent speech 23.1% 3/13
Abnormality of the voice 15.4% 2/13
Echolalia 15.4% 2/13
Nasal speech 15.4% 2/13
Agitation 7.7% 1/13
Drooling 7.7% 1/13
Dysarthria 7.7% 1/13
Feeding difficulties 7.7% 1/13
Hoarse cry 7.7% 1/13
Poor suck 7.7% 1/13
Sleep disturbance 7.7% 1/13
Stereotypic behavior 7.7% 1/13
Brain abnormality 80.0% 8/10
Abnormality of the corpus callosum 30.0% 3/10
Abnormality of the cerebellar vermis 20.0% 2/10
Abnormality of the cerebral white matter 10.0% 1/10
Abnormal cortical gyration 10.0% 1/10
Cerebral calcification 10.0% 1/10
Cerebral cortical atrophy 10.0% 1/10
Delayed myelination 10.0% 1/10
Dilation of lateral ventricles 10.0% 1/10
Encephalomalacia 10.0% 1/10
Megalencephaly 10.0% 1/10
Small pituitary gland 10.0% 1/10
Ventriculomegaly 10.0% 1/10
Facial abnormalities    
Abnormality of the ear 70.6% 12/17
Macrotia 23.5% 4/17
Abnormality of the pinna 17.6% 3/17
Cupped ear 17.6% 3/17
Low-set ears 11.8% 2/17
Anteverted ears 5.9% 1/17
Hypoplasia of the antihelix 5.9% 1/17
Prominent antihelix 5.9% 1/17
Protruding ear 5.9% 1/17
Small earlobe 5.9% 1/17
Abnormality of the eye 52.9% 9/17
Downslanted palpebral fissures 17.6% 3/17
Hypertelorism 11.8% 2/17
Proptosis 11.8% 2/17
Short palpebral fissure 11.8% 2/17
Slanting of the palpebral fissure 11.8% 2/17
Unilateral ptosis 11.8% 2/17
Deeply set eye 5.9% 1/17
Long palpebral fissure 5.9% 1/17
Nystagmus 5.9% 1/17
Strabismus 5.9% 1/17
Abnormality of the nose 35.3% 6/17
Prominent nasal bridge 23.5% 4/17
Anteverted nares 11.8% 2/17
Bulbous nose 11.8% 2/17
Absent nasal septal cartilage 5.9% 1/17
Convex nasal ridge 5.9% 1/17
Depressed nasal ridge 5.9% 1/17
Abnormality of the mouth 100.0% 16/16
Thick lower lip vermilion 62.5% 10/16
High palate 43.8% 7/16
Abnormality of the palate 37.5% 6/16
Mandibular prognathia 25.0% 4/16
Dental crowding 18.8% 3/16
Abnormality of the tongue 12.5% 2/16
Micrognathia 12.5% 2/16
Narrow mouth 12.5% 2/16
Agenesis of permanent teeth 6.3% 1/16
Bifid uvula 6.3% 1/16
Everted lower lip vermilion 6.3% 1/16
Hypoplasia of dental enamel 6.3% 1/16
Misalignment of teeth 6.3% 1/16
Open mouth 6.3% 1/16
Persistence of primary teeth 6.3% 1/16
Wide mouth 6.3% 1/16
Visual and hearing impairments    
Abnormal hearing 18.8% 3/16
Hearing impairment 6.3% 1/16
Sensorineural hearing impairment 6.3% 1/16
Unilateral deafness 6.3% 1/16
Abnormal vision 40.0% 6/15
Rod-cone dystrophy 13.3% 2/15
Abnormality of retinal pigmentation 6.7% 1/15
Cortical visual impairment 6.7% 1/15
Myopia 6.7% 1/15
Polar cataract 6.7% 1/15
Severe Myopia 6.7% 1/15
Heart    
Abnormality of the heart 11.8% 2/17
Pulmonary hypertension 11.8% 2/17
Abnormal heart morphology 5.9% 1/17
Bradycardia 5.9% 1/17
Persistent left superior vena cava 5.9% 1/17
Gastrointestinal    
Gastrointestinal abnormalities 23.5% 4/17
Cholestasis 11.8% 2/17
Constipation 11.8% 2/17
Abnormality of the liver 5.9% 1/17
Abnormal gallbladder morphology 5.9% 1/17
Aganglionic megacolon 5.9% 1/17
Elevated hepatic transaminases 5.9% 1/17
Episodic vomiting 5.9% 1/17
Exocrine pancreatic insufficiency 5.9% 1/17
Hepatic fibrosis 5.9% 1/17
Intestinal malrotation 5.9% 1/17
Jaundice 5.9% 1/17
Malrotation of small bowel 5.9% 1/17
Small intestinal stenosis 5.9% 1/17
Urogenital    
Abnormality of the urogenital system 47.1% 8/17
Cryptorchidism 23.5% 4/17
Hypospadias 11.8% 2/17
Nephrocalcinosis 11.8% 2/17
Bilateral cryptorchidism 5.9% 1/17
Decreased testicular size 5.9% 1/17
Ectopic kidney 5.9% 1/17
Horseshoe kidney 5.9% 1/17
Hydrocele testis 5.9% 1/17
Hydronephrosis 5.9% 1/17
Hyoplasia of the Leydig cells 5.9% 1/17
Hypoplasia of penis 5.9% 1/17
Multicystic kidney dysplasia 5.9% 1/17
Nephrolithiasis 5.9% 1/17
Renal duplication 5.9% 1/17
Renal tubular dysfunction 5.9% 1/17
Skeleton    
Skeletal abnormalities 100.0% 17/17
Arachnodactyly 41.2% 7/17
Slender build 41.2% 7/17
Kyphoscoliosis 35.3% 6/17
Pectus carinatum 29.4% 5/17
Fractures of the long bones 23.5% 4/17
Long hallux 23.5% 4/17
Long toe 17.6% 3/17
Osteoporosis 17.6% 3/17
Broad hallux 11.8% 2/17
Congenital bilateral hip dislocation 11.8% 2/17
Flexion contracture 11.8% 2/17
Hyperextensibility of the finger joints 11.8% 2/17
Pectus excavatum 11.8% 2/17
Slender long bone 11.8% 2/17
Thickened calvaria 11.8% 2/17
Abnormality of the vertebrae 5.9% 1/17
Abnormality of the thorax 5.9% 1/17
Bone pain 5.9% 1/17
Camptodactyly 5.9% 1/17
Camptodactyly of finger 5.9% 1/17
Dysplastic sacrum 5.9% 1/17
Finger joint hypermobility 5.9% 1/17
Hallux valgus 5.9% 1/17
Hemiatrophy 5.9% 1/17
Kyphosis 5.9% 1/17
Limb undergrowth 5.9% 1/17
Limb joint contracture 5.9% 1/17
Lumbar kyphoscoliosis 5.9% 1/17
Multiple joint contractures 5.9% 1/17
Osteopenia 5.9% 1/17
Platyspondyly 5.9% 1/17
Prominent calcaneus 5.9% 1/17
Recurrent fractures 5.9% 1/17
Scoliosis 5.9% 1/17
Short neck 5.9% 1/17
Thoracic kyphoscoliosis 5.9% 1/17
Thoracic scoliosis 5.9% 1/17
Vertebral compression fractures 5.9% 1/17
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 47.1% 8/17
Abnormal hair whorl 11.8% 2/17
Abnormality of the eyebrow 11.8% 2/17
Hypoplastic toenails 11.8% 2/17
Low anterior hairline 11.8% 2/17
Reduced subcutaneous adipose tissue 11.8% 2/17
Sacral dimple 11.8% 2/17
Single transverse palmar crease 11.8% 2/17
Webbed neck 11.8% 2/17
Forehead hyperpigmentation 5.9% 1/17
Frontal upsweep of hair 5.9% 1/17
Highly arched eyebrow 5.9% 1/17
Hypertrichosis 5.9% 1/17
Long eyelashes 5.9% 1/17
Spotty hyperpigmentation 5.9% 1/17
Synophrys 5.9% 1/17
Thick eyebrow 5.9% 1/17
Wide intermamillary distance 5.9% 1/17
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 23.5% 4/17
Abnormality of calcium-phosphate metabolism 11.8% 2/17
Abnormality of blood glucose concentration 5.9% 1/17
Hypothyroidism 5.9% 1/17
Recurrent hypoglycemia 5.9% 1/17
Abnormality of the metabolic system 17.6% 3/17
Renal tubular acidosis 11.8% 2/17
Abnormality of blood glucose concentration 5.9% 1/17
Lactose intolerance 5.9% 1/17
Abnormality of the immune system 23.5% 4/17
Recurrent pneumonia 23.5% 4/17
Recurrent urinary tract infections 5.9% 1/17
Recurrent bronchiolitis 5.9% 1/17