Patient Overview : 46

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 58.3% 21/36
Female 41.7% 15/36
Neurology    
Neurological abnormalities 95.5% 21/22
Muscular hypotonia 50.0% 11/22
Brisk reflexes 31.8% 7/22
Seizures 13.6% 3/22
Generalized hypotonia 9.1% 2/22
Poor head control 9.1% 2/22
Facial hypotonia 4.5% 1/22
Febrile seizures 4.5% 1/22
Focal myoclonic seizures 4.5% 1/22
Limb hypertonia 4.5% 1/22
Muscular hypotonia of the trunk 4.5% 1/22
Oral motor hypotonia 4.5% 1/22
Spasticity 4.5% 1/22
Status epilepticus 4.5% 1/22
Behavioral problems 40.0% 6/15
Autism 20.0% 3/15
Abnormal social behavior 6.7% 1/15
Aggressive behavior 6.7% 1/15
Attention deficit hyperactivity disorder 6.7% 1/15
Brain abnormality 87.0% 20/23
Abnormal cortical gyration 39.1% 9/23
Agenesis of corpus callosum 30.4% 7/23
Abnormality of the subarachnoid space 21.7% 5/23
Cerebellar vermis hypoplasia 17.4% 4/23
Cortical gyral simplification 17.4% 4/23
Pachygyria 17.4% 4/23
Frontotemporal cerebral atrophy 13.0% 3/23
Arachnoid cyst 8.7% 2/23
Encephalitis 8.7% 2/23
Hypoplasia of the frontal lobes 8.7% 2/23
Acute necrotizing encephalopathy 4.3% 1/23
Cerebellar atrophy 4.3% 1/23
Dysplastic corpus callosum 4.3% 1/23
Gliosis 4.3% 1/23
Hydrocephalus 4.3% 1/23
Hypoplasia of the corpus callosum 4.3% 1/23
Molar tooth sign on MRI 4.3% 1/23
Partial agenesis of the corpus callosum 4.3% 1/23
Ventriculomegaly 4.3% 1/23
Facial abnormalities    
Abnormality of the ear 46.9% 15/32
Low-set ears 25.0% 8/32
Microtia 18.8% 6/32
Absent earlobe 15.6% 5/32
Small earlobe 6.3% 2/32
Abnormality of the eye 50.0% 16/32
Proptosis 21.9% 7/32
Small palpebral fissure 21.9% 7/32
Downslanted palpebral fissures 18.8% 6/32
Hypertelorism 18.8% 6/32
Telecanthus 18.8% 6/32
Thick eyebrow 18.8% 6/32
Sparse eyebrow 15.6% 5/32
Large eyes 9.4% 3/32
Upslanted palpebral fissure 6.3% 2/32
Prominent eyelashes 3.1% 1/32
Abnormality of the nose 87.5% 28/32
Thin anteverted nares 34.4% 11/32
Prominent nose 21.9% 7/32
Broad nasal tip 18.8% 6/32
Wide nasal bridge 18.8% 6/32
Anteverted nares 15.6% 5/32
Prominent nasal bridge 9.4% 3/32
Depressed nasal bridge 3.1% 1/32
Prominent nasal tip 3.1% 1/32
Abnormality of the mouth 90.9% 30/33
Thin upper lip vermilion 51.5% 17/33
Long philtrum 39.4% 13/33
Micrognathia 36.4% 12/33
High palate 18.2% 6/33
Thick vermilion border 9.1% 3/33
Retrognathia 6.1% 2/33
Dental crowding 3.0% 1/33
Hypocalcification of dental enamel 3.0% 1/33
Hypoplasia of dental enamel 3.0% 1/33
Microdontia 3.0% 1/33
Thick upper lip vermilion 3.0% 1/33
Wide mouth 3.0% 1/33
Visual and hearing impairments    
Abnormal hearing 36.8% 7/19
Sensorineural hearing impairment 15.8% 3/19
Bilateral sensorineural hearing impairment 10.5% 2/19
Abnormality of the tympanic membrane 5.3% 1/19
Mild conductive hearing impairment 5.3% 1/19
Sinusitis 5.3% 1/19
Abnormal vision 72.0% 18/25
Retinal dystrophy 40.0% 10/25
Nyctalopia 16.0% 4/25
Abnormality of retinal pigmentation 12.0% 3/25
Astigmatism 12.0% 3/25
Cataract 4.0% 1/25
Chorioretinal atrophy 4.0% 1/25
Myopia 4.0% 1/25
Optic disc pallor 4.0% 1/25
Photophobia 4.0% 1/25
Retinal dystrophy with early macular involvement 4.0% 1/25
Rod-cone dystrophy 4.0% 1/25
Strabismus 4.0% 1/25
Heart    
Abnormality of the heart 37.5% 12/32
Third degree atrioventricular block 12.5% 4/32
Atria septal defect 9.4% 3/32
Ventricular septal defect 9.4% 3/32
Patent ductus arteriosus 6.3% 2/32
Abnormality of cardiovascular system physiology 3.1% 1/32
Bradycardia 3.1% 1/32
Impaired left ventricular function 3.1% 1/32
Noncompaction cardiomyopathy 3.1% 1/32
Patent foramen ovale 3.1% 1/32
Ventricular hypertrophy 3.1% 1/32
Pulmonary    
Abnormality of the lungs 91.7% 22/24
Bronchiectasis 33.3% 8/24
Recurrent upper and lower respiratory tract infections 33.3% 8/24
Pneumonia 20.8% 5/24
Recurrent pneumonia 20.8% 5/24
Recurrent respiratory infections 16.7% 4/24
Asthma 8.3% 2/24
Pulmonary hypoplasia 8.3% 2/24
Respiratory arrest 8.3% 2/24
Bronchitis 4.2% 1/24
Chronic bronchitis 4.2% 1/24
Pulmonary edema 4.2% 1/24
Recurrent lower respiratory tract infections 4.2% 1/24
Respiratory tract infection 4.2% 1/24
Restrictive lung disease 4.2% 1/24
Gastrointestinal    
Gastrointestinal abnormalities 70.8% 17/24
Hepatosplenomegaly 37.5% 9/24
Feeding difficulties 16.7% 4/24
Feeding difficulties in infancy 8.3% 2/24
Recurrent infection of the gastrointestinal tract 8.3% 2/24
Cholestatic liver disease 4.2% 1/24
Chronic colitis 4.2% 1/24
Conjugated hyperbilirubinemia 4.2% 1/24
Diarrhea 4.2% 1/24
Episodic vomiting 4.2% 1/24
Gastroesophageal reflux 4.2% 1/24
Hepatic fibrosis 4.2% 1/24
Urogenital    
Abnormality of the urogenital system 64.7% 11/17
Micropenis 17.6% 3/17
Abnormality of the fallopian tube 11.8% 2/17
Hypergonadotropic hypogonadism 11.8% 2/17
Hypospadias 11.8% 2/17
Abnormal renal morphology 5.9% 1/17
Cryptorchidism 5.9% 1/17
External genital hypoplasia 5.9% 1/17
Small scrotum 5.9% 1/17
Urachal cyst 5.9% 1/17
Skeleton    
Skeletal abnormalities 95.5% 42/44
Brachydactyly syndrome 59.1% 26/44
Abnormal bone ossification 29.5% 13/44
Clinodactyly 25.0% 11/44
Limb undergrowth 25.0% 11/44
Short foot 22.7% 10/44
Spondyloepiphyseal dysplasia 22.7% 10/44
Short metacarpal 20.5% 9/44
Small hand 18.2% 8/44
Tapered finger 18.2% 8/44
Abnormality of the acetabulum 15.9% 7/44
Flexion contracture 15.9% 7/44
Abnormal ossification of the pubic bone 11.4% 5/44
Metaphyseal widening 11.4% 5/44
Short palm 11.4% 5/44
Multiple epiphyseal dysplasia 9.1% 4/44
Platyspondyly 9.1% 4/44
Abnormality of the palmar creases 6.8% 3/44
Coxa vara 6.8% 3/44
Epiphyseal dysplasia 6.8% 3/44
Flat capital femoral epiphysis 6.8% 3/44
Hypoplastic pubic bone 6.8% 3/44
Irregularity of vertebral bodies 6.8% 3/44
Congenital hip dislocation 4.5% 2/44
Delayed skeletal maturation 4.5% 2/44
Hip dislocation 4.5% 2/44
Joint laxity 4.5% 2/44
Scoliosis 4.5% 2/44
Short femur 4.5% 2/44
11 pairs of ribs 4.5% 2/44
Abnormality of phalanx of finger 2.3% 1/44
Aplasia of the phalanges of the toes 2.3% 1/44
Broad metatarsal 2.3% 1/44
Carpal bone aplasia 2.3% 1/44
Clinodactyly of the 5th finger 2.3% 1/44
Coxa valga 2.3% 1/44
Delayed epiphyseal ossification 2.3% 1/44
Dislocated radial head 2.3% 1/44
Disproportionate prominence of the femoral medial condyle 2.3% 1/44
Distal femoral metaphyseal abnormality 2.3% 1/44
Fibular hypoplasia 2.3% 1/44
Flared metaphysis 2.3% 1/44
Flattened knee epiphyses 2.3% 1/44
Flat acetabular roof 2.3% 1/44
Genu valgum 2.3% 1/44
Hip dysplasia 2.3% 1/44
Hypoplastic iliac wing 2.3% 1/44
Joint hypermobility 2.3% 1/44
Limited elbow extension 2.3% 1/44
Multiple joint contractures 2.3% 1/44
Patellar dislocation 2.3% 1/44
Proximal placement of thumb 2.3% 1/44
Short thumb 2.3% 1/44
Small radial epiphyses 2.3% 1/44
Talipes equinovalgus 2.3% 1/44
2-4 toe syndactyly 2.3% 1/44
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 91.7% 33/36
Dry skin 16.7% 6/36
Eczema 16.7% 6/36
Thick hair 16.7% 6/36
Small nail 13.9% 5/36
Sparse hair 13.9% 5/36
Atopic dermatitis 11.1% 4/36
Prolonged neonatal jaundice 11.1% 4/36
Edema of the lower limbs 8.3% 3/36
Ichthyosis 8.3% 3/36
Scaling skin 8.3% 3/36
Hyperkeratosis 5.6% 2/36
Jaundice 5.6% 2/36
Nail dysplasia 5.6% 2/36
Congenital nonbullous ichthyosiform erythroderma 2.8% 1/36
Cutis laxa 2.8% 1/36
Edema 2.8% 1/36
Joint laxity 2.8% 1/36
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 30.8% 4/13
Decreased serum insulin-like growth factor 1 23.1% 3/13
Thyroid-stimulating hormone excess 15.4% 2/13
Diabetic ketoacidosis 7.7% 1/13
Elevated follicle stimulating hormone 7.7% 1/13
Hypothyroidism 7.7% 1/13
Type I diabetes mellitus 7.7% 1/13
Abnormality of the metabolic system 36.4% 4/11
Elevated hepatic transaminases 18.2% 2/11
Abnormality of erythrocytes 9.1% 1/11
Exocrine pancreatic insufficiency 9.1% 1/11
Hyperbilirubinemia 9.1% 1/11
Reticulocytosis 9.1% 1/11
Abnormality of the immune system 82.8% 24/29
Specific antibody deficiency 48.3% 14/29
Panhypogammaglobulinemia 27.6% 8/29
Decreased memory B cell count 13.8% 4/29
Increased naive B cell count 13.8% 4/29
Recurrent infections of the middle ear 13.8% 4/29
IgG deficiency 10.3% 3/29
B lymphocytopenia 6.9% 2/29
Lymphopenia 6.9% 2/29
Severe B lymphocytopenia 6.9% 2/29
Abnormal immunoglobulin level 3.4% 1/29
Autoimmune hemolytic anemia 3.4% 1/29
Decreased number of CD4+ T cells 3.4% 1/29
Extramedullary hematopoiesis 3.4% 1/29
IgA deficiency 3.4% 1/29
IgM deficiency 3.4% 1/29
Otitis media 3.4% 1/29
Recurrent fungal infections 3.4% 1/29
Sepsis 3.4% 1/29