Patient Overview : 44

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 43.2% 19/44
Female 56.8% 25/44
Neurology    
Neurological abnormalities 87.5% 28/32
Muscular hypotonia 28.1% 9/32
Sleep disturbance 15.6% 5/32
Generalized tonic-clonic seizures 12.5% 4/32
Ankle clonus 6.3% 2/32
Focal seizures 6.3% 2/32
Hypertonia 6.3% 2/32
Infantile spasms 6.3% 2/32
Severe muscular hypotonia 6.3% 2/32
Abnormality of coordination 3.1% 1/32
Absent patellar reflexes 3.1% 1/32
Bilateral convulsive seizures 3.1% 1/32
Brisk reflexes 3.1% 1/32
Clonus 3.1% 1/32
Epileptic encephalopathy 3.1% 1/32
Facial hypotonia 3.1% 1/32
Focal seizures without impairment of consciousness or awareness 3.1% 1/32
Hyperreflexia 3.1% 1/32
Infantile axial hypotonia 3.1% 1/32
Limb hypertonia 3.1% 1/32
Lower limb hyperreflexia 3.1% 1/32
Migraine 3.1% 1/32
Neonatal hypotonia 3.1% 1/32
Obstructive sleep apnea 3.1% 1/32
Oral-pharyngeal dysphagia 3.1% 1/32
Sensorimotor neuropathy 3.1% 1/32
Spastic paraparesis 3.1% 1/32
Tremor 3.1% 1/32
Behavioral problems 87.0% 20/23
Autism 47.8% 11/23
Attention deficit hyperactivity disorder 13.0% 3/23
Autistic behavior 8.7% 2/23
Anxiety 4.3% 1/23
Behavioral abnormality 4.3% 1/23
Dyslexia 4.3% 1/23
Emotional lability 4.3% 1/23
Hyperactivity 4.3% 1/23
Memory impairment 4.3% 1/23
Obsessive-compulsive behavior 4.3% 1/23
Psychosis 4.3% 1/23
Recurrent hand flapping 4.3% 1/23
Short attention span 4.3% 1/23
Stereotypic behavior 4.3% 1/23
Brain abnormality 60.0% 12/20
Dandy-Walker malformation 15.0% 3/20
Ventriculomegaly 15.0% 3/20
Cerebellar vermis hypoplasia 10.0% 2/20
Inferior vermis hypoplasia 10.0% 2/20
Abnormality of the cerebellar vermis 5.0% 1/20
Arnold-Chiari type I malformation 5.0% 1/20
Atrophy/Degeneration affecting the brainstem 5.0% 1/20
Cerebral cortical atrophy 5.0% 1/20
Cortical dysplasia 5.0% 1/20
Delayed myelination 5.0% 1/20
Dilated fourth ventricle 5.0% 1/20
Hypoplasia of the pons 5.0% 1/20
Occipital cortical atrophy 5.0% 1/20
Polymicrogyria 5.0% 1/20
Small pituitary gland 5.0% 1/20
Widened subarachnoid space 5.0% 1/20
Facial abnormalities    
Abnormality of the ear 44.7% 17/38
Low-set ears 21.1% 8/38
Large earlobe 5.3% 2/38
Macrotia 5.3% 2/38
Overfolded helix 5.3% 2/38
Posteriorly rotated ears 5.3% 2/38
Abnormality of the pinna 2.6% 1/38
Aplasia/Hypoplasia of the tragus 2.6% 1/38
Cupped ear 2.6% 1/38
Low-set, posteriorly rotated ears 2.6% 1/38
Microtia 2.6% 1/38
Preauricular skin tag 2.6% 1/38
Protruding ear 2.6% 1/38
Small earlobe 2.6% 1/38
Thickened helices 2.6% 1/38
Abnormality of the eye 78.4% 29/37
Hypertelorism 18.9% 7/37
Epicanthus 16.2% 6/37
Highly arched eyebrow 16.2% 6/37
Deeply set eye 13.5% 5/37
Upslanted palpebral fissure 10.8% 4/37
Short palpebral fissure 8.1% 3/37
Telecanthus 8.1% 3/37
Downslanted palpebral fissures 5.4% 2/37
Small palpebral fissure 5.4% 2/37
Unilateral ptosis 5.4% 2/37
Almond-shaped palpebral fissure 2.7% 1/37
Ectropion 2.7% 1/37
Long palpebral fissure 2.7% 1/37
Prominent epicanthal folds 2.7% 1/37
Ptosis 2.7% 1/37
Sparse eyebrow 2.7% 1/37
Thick eyebrow 2.7% 1/37
Abnormality of the nose 47.4% 18/38
Depressed nasal bridge 21.1% 8/38
Anteverted nares 15.8% 6/38
Narrow nose 5.3% 2/38
Short nose 5.3% 2/38
Wide nasal bridge 5.3% 2/38
Abnormality of the nose 2.6% 1/38
Bulbous nose 2.6% 1/38
Depressed nasal tip 2.6% 1/38
Pear-shaped nose 2.6% 1/38
Prominent nose 2.6% 1/38
Abnormality of the mouth 71.1% 27/38
Thin upper lip vermilion 23.7% 9/38
Micrognathia 10.5% 4/38
Smooth philtrum 10.5% 4/38
Wide mouth 10.5% 4/38
Cleft palate 7.9% 3/38
High palate 7.9% 3/38
Narrow mouth 5.3% 2/38
Pierre-Robin sequence 5.3% 2/38
Short philtrum 5.3% 2/38
Thick vermilion border 5.3% 2/38
Abnormality of the alveolar ridges 2.6% 1/38
Agenesis of maxillary lateral incisor 2.6% 1/38
Carious teeth 2.6% 1/38
Chapped lip 2.6% 1/38
Delayed eruption of teeth 2.6% 1/38
Dental crowding 2.6% 1/38
Diastema 2.6% 1/38
Downturned corners of mouth 2.6% 1/38
Everted lower lip vermilion 2.6% 1/38
High, narrow palate 2.6% 1/38
Macrodontia of permanent maxillary central incisor 2.6% 1/38
Mandibular prognathia 2.6% 1/38
Microdontia 2.6% 1/38
Misalignment of teeth 2.6% 1/38
Oral cleft 2.6% 1/38
Protruding tongue 2.6% 1/38
Thick upper lip vermilion 2.6% 1/38
Widely spaced teeth 2.6% 1/38
Visual and hearing impairments    
Abnormal hearing 17.1% 6/35
Unilateral deafness 5.7% 2/35
Abnormality of the inner ear 2.9% 1/35
Bilateral sensorineural hearing impairment 2.9% 1/35
Conductive hearing impairment 2.9% 1/35
Glue ear 2.9% 1/35
Hearing impairment 2.9% 1/35
Morphological abnormality of the lateral semicircular canal 2.9% 1/35
Sensorineural hearing impairment 2.9% 1/35
Abnormal vision 37.1% 13/35
Hypermetropia 8.6% 3/35
Strabismus 8.6% 3/35
Astigmatism 5.7% 2/35
Myopia 5.7% 2/35
Anterior segment dysgenesis 2.9% 1/35
Blindness 2.9% 1/35
Central posterior corneal opacity 2.9% 1/35
Corneal opacity 2.9% 1/35
Cortical visual impairment 2.9% 1/35
Esotropia 2.9% 1/35
Iris coloboma 2.9% 1/35
Macular hypoplasia 2.9% 1/35
Optic nerve coloboma 2.9% 1/35
Heart    
Abnormality of the heart 59.1% 13/22
Ventricular septal defect 22.7% 5/22
Patent ductus arteriosus 18.2% 4/22
Atria septal defect 13.6% 3/22
Bicuspid aortic valve 9.1% 2/22
Patent foramen ovale 9.1% 2/22
Abnormal heart morphology 4.5% 1/22
Biventricular hypertrophy 4.5% 1/22
Coarctation of aorta 4.5% 1/22
Ebstein's anomaly of the tricuspid valve 4.5% 1/22
Heart murmur 4.5% 1/22
Left superior vena cava draining to coronary sinus 4.5% 1/22
Primum atrial septal defect 4.5% 1/22
Pulmonary artery hypoplasia 4.5% 1/22
Subaortic stenosis 4.5% 1/22
Supraventricular tachycardia 4.5% 1/22
Tetralogy of Fallot 4.5% 1/22
Pulmonary    
Abnormality of the lungs 100.0% 8/8
Asthma 37.5% 3/8
Laryngomalacia 25.0% 2/8
Tracheomalacia 25.0% 2/8
Aspiration 12.5% 1/8
Choanal stenosis 12.5% 1/8
Recurrent upper respiratory tract infections 12.5% 1/8
Respiratory infections in early life 12.5% 1/8
Gastrointestinal    
Gastrointestinal abnormalities 65.4% 17/26
Feeding difficulties 30.8% 8/26
Gastroesophageal reflux 26.9% 7/26
Constipation 15.4% 4/26
Feeding difficulties in infancy 11.5% 3/26
Abdominal pain 3.8% 1/26
Chronic constipation 3.8% 1/26
Diarrhea 3.8% 1/26
Duodenal atresia 3.8% 1/26
Urogenital    
Abnormality of the urogenital system 58.8% 10/17
Hydronephrosis 23.5% 4/17
Multicystic kidney dysplasia 11.8% 2/17
Uterus didelphys 11.8% 2/17
Bilateral cryptorchidism 5.9% 1/17
Cryptorchidism 5.9% 1/17
Hypospadias 5.9% 1/17
Microphallus 5.9% 1/17
Pyelonephritis 5.9% 1/17
Recurrent urinary tract infections 5.9% 1/17
Renal cyst 5.9% 1/17
Scrotal hypoplasia 5.9% 1/17
Unilateral renal hypoplasia 5.9% 1/17
Vesicoureteral reflux 5.9% 1/17
Skeleton    
Skeletal abnormalities 80.0% 28/35
Arachnodactyly 11.4% 4/35
Clinodactyly of the 5th finger 11.4% 4/35
Delayed skeletal maturation 5.7% 2/35
Hip dysplasia 5.7% 2/35
Long fingers 5.7% 2/35
Overlapping toe 5.7% 2/35
Pes planus 5.7% 2/35
Scoliosis 5.7% 2/35
Short neck 5.7% 2/35
Small hand 5.7% 2/35
Tapered finger 5.7% 2/35
2-3 toe syndactyly 5.7% 2/35
Abnormality of the phalanges of the toes 2.9% 1/35
Broad toe 2.9% 1/35
Clinodactyly of the 5th toe 2.9% 1/35
Congenital muscular torticollis 2.9% 1/35
Cubitus valgus 2.9% 1/35
Enlarged thorax 2.9% 1/35
Flexion contracture of finger 2.9% 1/35
Hip dislocation 2.9% 1/35
Joint laxity 2.9% 1/35
Kyphoscoliosis 2.9% 1/35
Long toe 2.9% 1/35
Pectus excavatum 2.9% 1/35
Postaxial hand polydactyly 2.9% 1/35
Progressive flexion contractures 2.9% 1/35
Recurrent fractures 2.9% 1/35
Short phalanx of finger 2.9% 1/35
Single transverse palmar crease 2.9% 1/35
Thoracolumbar scoliosis 2.9% 1/35
Wide anterior fontanel 2.9% 1/35
4-5 finger syndactyly 2.9% 1/35
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 61.3% 19/31
Cafe-au-lait spot 12.9% 4/31
Supernumerary nipple 12.9% 4/31
Aplastic/hypoplastic toenail 6.5% 2/31
Inverted nipples 6.5% 2/31
Nail dysplasia 6.5% 2/31
Small nail 6.5% 2/31
Sparse hair 6.5% 2/31
Abnormal number of hair whorls 3.2% 1/31
Bruising susceptibility 3.2% 1/31
Clinodactyly 3.2% 1/31
Frontal upsweep of hair 3.2% 1/31
Hyperconvex fingernails 3.2% 1/31
Hypoplastic toenails 3.2% 1/31
Low anterior hairline 3.2% 1/31
Low posterior hairline 3.2% 1/31
Soft skin 3.2% 1/31
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 100.0% 1/1
Hypothyroidism 100.0% 1/1
Abnormality of the immune system 100.0% 5/5
Otitis media 40.0% 2/5
Recurrent otitis media 40.0% 2/5
Recurrent infections 20.0% 1/5