CLTC
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 62.8% | 27/43 |
| Female | 37.2% | 16/43 |
| Indifferent | 0% | 0/43 |
| Unknown | 0% | 0/43 |
| General | ||
| Birth Length abnormalities | 4.7% | 2/43 |
| < P3 : Birth length less than 3rd percentile | 4.7% | 2/43 |
| Birth Weight abnormalities | 11.6% | 5/43 |
| < P3 : Small for gestational age | 11.6% | 5/43 |
| Birth Head circumference abnormalities | 9.3% | 4/43 |
| < P3 : Congenital microcephaly | 9.3% | 4/43 |
| Current Height abnormalities | 16.3% | 7/43 |
| > P98 : Tall stature | 2.3% | 1/43 |
| < P3 : Short stature | 14.0% | 6/43 |
| Current Weight abnormalities | 18.6% | 8/43 |
| < P3 : Decreased body weight | 16.3% | 7/43 |
| > P98 : Increased body weight | 2.3% | 1/43 |
| Current Head circumference abnormalities | 27.9% | 12/43 |
| < P3 : Microcephaly | 25.6% | 11/43 |
| > P98 : Macrocephaly | 2.3% | 1/43 |
| Neurology | ||
| Neurological abnormalities | 87.2% | 34/39 |
| Generalized hypotonia | 25.6% | 10/39 |
| Muscular hypotonia | 20.5% | 8/39 |
| Ataxia | 15.4% | 6/39 |
| Seizures | 15.4% | 6/39 |
| EEG abnormality | 12.8% | 5/39 |
| Myoclonus | 12.8% | 5/39 |
| Clumsiness | 10.3% | 4/39 |
| Absence seizures | 7.7% | 3/39 |
| Gait disturbance | 7.7% | 3/39 |
| Oromotor apraxia | 7.7% | 3/39 |
| Broad-based gait | 5.1% | 2/39 |
| Delayed speech and language development | 5.1% | 2/39 |
| Dystonia | 5.1% | 2/39 |
| Generalized tonic-clonic seizures | 5.1% | 2/39 |
| Generalized tonic seizures | 5.1% | 2/39 |
| Intellectual disability, moderate | 5.1% | 2/39 |
| Poor fine motor coordination | 5.1% | 2/39 |
| Abnormality of saccadic eye movements | 2.6% | 1/39 |
| Absent speech | 2.6% | 1/39 |
| Bradykinesia | 2.6% | 1/39 |
| Brisk reflexes | 2.6% | 1/39 |
| Central hypotonia | 2.6% | 1/39 |
| Cerebral palsy | 2.6% | 1/39 |
| Choreoathetosis | 2.6% | 1/39 |
| Delayed closure of the anterior fontanelle | 2.6% | 1/39 |
| Dysphagia | 2.6% | 1/39 |
| Easy fatigability | 2.6% | 1/39 |
| Epileptic spasms | 2.6% | 1/39 |
| Episodic ataxia | 2.6% | 1/39 |
| Febrile seizures | 2.6% | 1/39 |
| Focal seizures without impairment of consciousness or awareness | 2.6% | 1/39 |
| Frequent falls | 2.6% | 1/39 |
| Gait imbalance | 2.6% | 1/39 |
| Generalized seizures | 2.6% | 1/39 |
| Global developmental delay | 2.6% | 1/39 |
| Hearing impairment | 2.6% | 1/39 |
| Hoarse voice | 2.6% | 1/39 |
| Horizontal nystagmus | 2.6% | 1/39 |
| Hypokinesia | 2.6% | 1/39 |
| Hypomimic face | 2.6% | 1/39 |
| Hyporeflexia | 2.6% | 1/39 |
| Intellectual disability | 2.6% | 1/39 |
| Lower limb spasticity | 2.6% | 1/39 |
| Lower limb muscle weakness | 2.6% | 1/39 |
| Microcephaly | 2.6% | 1/39 |
| Muscle stiffness | 2.6% | 1/39 |
| Neonatal hypotonia | 2.6% | 1/39 |
| Poor gross motor coordination | 2.6% | 1/39 |
| Progressive spasticity | 2.6% | 1/39 |
| Reduced tendon reflexes | 2.6% | 1/39 |
| Rigidity | 2.6% | 1/39 |
| Slurred speech | 2.6% | 1/39 |
| Spastic gait | 2.6% | 1/39 |
| Spasticity | 2.6% | 1/39 |
| Specific learning disability | 2.6% | 1/39 |
| Syringomyelia | 2.6% | 1/39 |
| Tremor | 2.6% | 1/39 |
| Tremor by anatomical site | 2.6% | 1/39 |
| Truncal ataxia | 2.6% | 1/39 |
| Visual impairment | 2.6% | 1/39 |
| Behavioral problems | 70.7% | 29/41 |
| Anxiety | 12.2% | 5/41 |
| Attention deficit hyperactivity disorder | 12.2% | 5/41 |
| Aggressive behavior | 9.8% | 4/41 |
| Autistic behavior | 9.8% | 4/41 |
| Behavioral abnormality | 9.8% | 4/41 |
| Short attention span | 9.8% | 4/41 |
| Impaired social interactions | 7.3% | 3/41 |
| Sleep disturbance | 7.3% | 3/41 |
| Absent speech | 4.9% | 2/41 |
| Autism | 4.9% | 2/41 |
| Fatigue | 4.9% | 2/41 |
| Hyperactivity | 4.9% | 2/41 |
| Obsessive-compulsive behavior | 4.9% | 2/41 |
| Self-injurious behavior | 4.9% | 2/41 |
| Abnormal social behavior | 2.4% | 1/41 |
| Depression | 2.4% | 1/41 |
| Difficulty walking | 2.4% | 1/41 |
| Emotional lability | 2.4% | 1/41 |
| Impaired social reciprocity | 2.4% | 1/41 |
| Impulsivity | 2.4% | 1/41 |
| Low frustration tolerance | 2.4% | 1/41 |
| Perseveration | 2.4% | 1/41 |
| Restrictive behavior | 2.4% | 1/41 |
| Shyness | 2.4% | 1/41 |
| Sleep apnea | 2.4% | 1/41 |
| Stereotypical hand wringing | 2.4% | 1/41 |
| Brain abnormality | 64.7% | 22/34 |
| Hypoplasia of the corpus callosum | 20.6% | 7/34 |
| Abnormality of the cerebral ventricles | 5.9% | 2/34 |
| Abnormality of the cerebral white matter | 5.9% | 2/34 |
| Cerebellar hypoplasia | 5.9% | 2/34 |
| Delayed CNS myelination | 5.9% | 2/34 |
| Perivascular spaces | 5.9% | 2/34 |
| Abnormality of the corpus callosum | 2.9% | 1/34 |
| Abnormality of the periventricular white matter | 2.9% | 1/34 |
| Abnormality of the cerebellum | 2.9% | 1/34 |
| Aplasia/Hypoplasia of the cerebral white matter | 2.9% | 1/34 |
| Aplasia/Hypoplasia of the cerebellum | 2.9% | 1/34 |
| Arachnoid cyst | 2.9% | 1/34 |
| Asymmetric ventricles | 2.9% | 1/34 |
| Benign neoplasm of the central nervous system | 2.9% | 1/34 |
| Brainstem dysplasia | 2.9% | 1/34 |
| Brain abscess | 2.9% | 1/34 |
| Cavum septum pellucidum | 2.9% | 1/34 |
| Cerebral ischemia | 2.9% | 1/34 |
| Cerebellar atrophy | 2.9% | 1/34 |
| Cerebral hypomyelination | 2.9% | 1/34 |
| Cortical dysplasia | 2.9% | 1/34 |
| Diffuse cerebral atrophy | 2.9% | 1/34 |
| Dilation of lateral ventricles | 2.9% | 1/34 |
| EEG abnormality | 2.9% | 1/34 |
| Frontal cortical atrophy | 2.9% | 1/34 |
| Global brain atrophy | 2.9% | 1/34 |
| Microcephaly | 2.9% | 1/34 |
| Partial agenesis of the corpus callosum | 2.9% | 1/34 |
| Periventricular leukomalacia | 2.9% | 1/34 |
| Periventricular cysts | 2.9% | 1/34 |
| Pontocerebellar atrophy | 2.9% | 1/34 |
| Short corpus callosum | 2.9% | 1/34 |
| Facial abnormalities | ||
| Abnormality of the ear | 24.2% | 8/33 |
| Abnormality of the outer ear | 3.0% | 1/33 |
| Glue ear | 3.0% | 1/33 |
| Large fleshy ears | 3.0% | 1/33 |
| Posteriorly rotated ears | 3.0% | 1/33 |
| Prominent ear helix | 3.0% | 1/33 |
| Protruding ear | 3.0% | 1/33 |
| Abnormality of the eye | 37.5% | 12/32 |
| Upslanted palpebral fissure | 15.6% | 5/32 |
| Hypotelorism | 6.3% | 2/32 |
| Almond-shaped palpebral fissure | 3.1% | 1/32 |
| Blue irides | 3.1% | 1/32 |
| Blue sclerae | 3.1% | 1/32 |
| Epicanthus | 3.1% | 1/32 |
| Hypermetropia | 3.1% | 1/32 |
| Long palpebral fissure | 3.1% | 1/32 |
| Long eyelashes | 3.1% | 1/32 |
| Periorbital hyperpigmentation | 3.1% | 1/32 |
| Periorbital fullness | 3.1% | 1/32 |
| Ptosis | 3.1% | 1/32 |
| Thick eyebrow | 3.1% | 1/32 |
| Abnormality of the nose | 28.1% | 9/32 |
| Anteverted nares | 6.3% | 2/32 |
| Broad nasal tip | 6.3% | 2/32 |
| Bulbous nose | 6.3% | 2/32 |
| Long nose | 6.3% | 2/32 |
| Convex nasal ridge | 3.1% | 1/32 |
| Narrow nasal ridge | 3.1% | 1/32 |
| Narrow nose | 3.1% | 1/32 |
| Prominent nose | 3.1% | 1/32 |
| Wide nasal ridge | 3.1% | 1/32 |
| Abnormality of the mouth | 45.5% | 15/33 |
| High palate | 9.1% | 3/33 |
| Thin upper lip vermilion | 9.1% | 3/33 |
| Wide mouth | 9.1% | 3/33 |
| Narrow palate | 6.1% | 2/33 |
| Smooth philtrum | 6.1% | 2/33 |
| Dental crowding | 3.0% | 1/33 |
| Gingival overgrowth | 3.0% | 1/33 |
| Incisor macrodontia | 3.0% | 1/33 |
| Macrodontia of permanent maxillary central incisor | 3.0% | 1/33 |
| Macrodontia | 3.0% | 1/33 |
| Microretrognathia | 3.0% | 1/33 |
| Micrognathia | 3.0% | 1/33 |
| Narrow mouth | 3.0% | 1/33 |
| Open mouth | 3.0% | 1/33 |
| Oromotor apraxia | 3.0% | 1/33 |
| Short lingual frenulum | 3.0% | 1/33 |
| Short uvula | 3.0% | 1/33 |
| Tented upper lip vermilion | 3.0% | 1/33 |
| Thick lower lip vermilion | 3.0% | 1/33 |
| Visual and hearing impairments | ||
| Abnormal hearing | 12.2% | 5/41 |
| Hearing impairment | 7.3% | 3/41 |
| Mild hearing impairment | 2.4% | 1/41 |
| Sensorineural hearing impairment | 2.4% | 1/41 |
| Abnormal vision | 36.6% | 15/41 |
| Strabismus | 12.2% | 5/41 |
| Cortical visual impairment | 7.3% | 3/41 |
| Hypermetropia | 7.3% | 3/41 |
| Abnormality of refraction | 4.9% | 2/41 |
| Abnormality of the optic nerve | 2.4% | 1/41 |
| Abnormality of vision | 2.4% | 1/41 |
| Astigmatism | 2.4% | 1/41 |
| Congenital strabismus | 2.4% | 1/41 |
| Myopia | 2.4% | 1/41 |
| Nystagmus | 2.4% | 1/41 |
| Photophobia | 2.4% | 1/41 |
| Poor eye contact | 2.4% | 1/41 |
| Heart | ||
| Abnormality of the heart | 5.7% | 2/35 |
| Bicuspid aortic valve | 2.9% | 1/35 |
| Left ventricular noncompaction | 2.9% | 1/35 |
| Pulmonary | ||
| Abnormality of the lungs | 7.4% | 2/27 |
| Asthma | 3.7% | 1/27 |
| Obstructive sleep apnea | 3.7% | 1/27 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 37.2% | 16/43 |
| Gastroesophageal reflux | 14.0% | 6/43 |
| Constipation | 11.6% | 5/43 |
| Feeding difficulties | 4.7% | 2/43 |
| Chronic diarrhea | 2.3% | 1/43 |
| Drooling | 2.3% | 1/43 |
| Feeding difficulties in infancy | 2.3% | 1/43 |
| Gastrointestinal dysmotility | 2.3% | 1/43 |
| Ileal atresia | 2.3% | 1/43 |
| Intestinal malrotation | 2.3% | 1/43 |
| Malnutrition | 2.3% | 1/43 |
| Ulcerative colitis | 2.3% | 1/43 |
| Urogenital | ||
| Abnormality of the urogenital system | 10.3% | 4/39 |
| Cryptorchidism | 2.6% | 1/39 |
| Dilatation of the renal pelvis | 2.6% | 1/39 |
| Menorrhagia | 2.6% | 1/39 |
| Nocturia | 2.6% | 1/39 |
| Shawl scrotum | 2.6% | 1/39 |
| Skeleton | ||
| Skeletal abnormalities | 46.3% | 19/41 |
| Pes planus | 9.8% | 4/41 |
| Clinodactyly of the 5th finger | 7.3% | 3/41 |
| Scoliosis | 7.3% | 3/41 |
| Broad hallux | 4.9% | 2/41 |
| Joint hypermobility | 4.9% | 2/41 |
| Joint laxity | 4.9% | 2/41 |
| Prominent fingertip pads | 4.9% | 2/41 |
| Abnormality of the knees | 2.4% | 1/41 |
| Bifid ribs | 2.4% | 1/41 |
| Broad thumb | 2.4% | 1/41 |
| Delayed skeletal maturation | 2.4% | 1/41 |
| Finger joint hypermobility | 2.4% | 1/41 |
| Foot asymmetry | 2.4% | 1/41 |
| Generalized hypotonia | 2.4% | 1/41 |
| Hallux valgus | 2.4% | 1/41 |
| Hip dysplasia | 2.4% | 1/41 |
| Kyphoscoliosis | 2.4% | 1/41 |
| Limitation of joint mobility | 2.4% | 1/41 |
| Long palm | 2.4% | 1/41 |
| Long fingers | 2.4% | 1/41 |
| Lower limb asymmetry | 2.4% | 1/41 |
| Narrow palm | 2.4% | 1/41 |
| Overlapping toe | 2.4% | 1/41 |
| Pectus excavatum | 2.4% | 1/41 |
| Positional foot deformity | 2.4% | 1/41 |
| Tapered finger | 2.4% | 1/41 |
| Toe syndactyly | 2.4% | 1/41 |
| 3-4 finger syndactyly | 2.4% | 1/41 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 15.8% | 6/38 |
| Abnormal hair pattern | 2.6% | 1/38 |
| Coarse hair | 2.6% | 1/38 |
| Facial erythema | 2.6% | 1/38 |
| Hypertrichosis | 2.6% | 1/38 |
| Irregular hyperpigmentation | 2.6% | 1/38 |
| Low anterior hairline | 2.6% | 1/38 |
| Low posterior hairline | 2.6% | 1/38 |
| Short nail | 2.6% | 1/38 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 3.2% | 1/31 |
| Hyperprolinemia | 3.2% | 1/31 |
| Abnormality of the immune system | 12.5% | 4/32 |
| Aspiration pneumonia | 3.1% | 1/32 |
| Asthma | 3.1% | 1/32 |
| Recurrent otitis media | 3.1% | 1/32 |
| Recurrent infections | 3.1% | 1/32 |