Percentage | Cases | |
---|---|---|
Gender | ||
Male | 80.0% | 4/5 |
Female | 20.0% | 1/5 |
General | ||
Birth Length abnormalities | 20.0% | 1/5 |
< P3 : Birth length less than 3rd percentile | 20.0% | 1/5 |
Birth Weight abnormalities | 0% | 0/5 |
Birth Head circumference abnormalities | 0% | 0/5 |
Current Height abnormalities | 40.0% | 2/5 |
< P3 : Short stature | 40.0% | 2/5 |
Current Weight abnormalities | 40.0% | 2/5 |
< P3 : Decreased body weight | 40.0% | 2/5 |
Current Head circumference abnormalities | 20.0% | 1/5 |
< P3 : Microcephaly | 20.0% | 1/5 |
Neurology | ||
Neurological abnormalities | 100.0% | 5/5 |
Limb hypertonia | 60.0% | 3/5 |
Neonatal hypotonia | 40.0% | 2/5 |
Seizures | 40.0% | 2/5 |
Cerebral palsy | 20.0% | 1/5 |
Infantile axial hypotonia | 20.0% | 1/5 |
Infantile muscular hypotonia | 20.0% | 1/5 |
Muscular hypotonia | 20.0% | 1/5 |
Spastic tetraplegia | 20.0% | 1/5 |
Behavioral problems | 20.0% | 1/5 |
Aggressive behavior | 20.0% | 1/5 |
Autism | 20.0% | 1/5 |
Hair-pulling | 20.0% | 1/5 |
Insomnia | 20.0% | 1/5 |
Brain abnormality | 100.0% | 5/5 |
Absent septum pellucidum | 60.0% | 3/5 |
Cortical dysplasia | 60.0% | 3/5 |
Hydrocephalus | 60.0% | 3/5 |
Polymicrogyria | 60.0% | 3/5 |
Arnold-Chiari type I malformation | 40.0% | 2/5 |
Agenesis of corpus callosum | 20.0% | 1/5 |
Aplasia/Hypoplasia of the cerebral white matter | 20.0% | 1/5 |
Colpocephaly | 20.0% | 1/5 |
Corpus callosum atrophy | 20.0% | 1/5 |
Hypoplasia of the corpus callosum | 20.0% | 1/5 |
Hypoplasia of the frontal lobes | 20.0% | 1/5 |
Optic nerve hypoplasia | 20.0% | 1/5 |
Facial abnormalities | ||
Abnormality of the ear | 25.0% | 1/4 |
Cupped ear | 25.0% | 1/4 |
Abnormality of the eye | 100.0% | 5/5 |
Hypertelorism | 80.0% | 4/5 |
Downslanted palpebral fissures | 40.0% | 2/5 |
Highly arched eyebrow | 40.0% | 2/5 |
Dermatochalasis | 20.0% | 1/5 |
Prominent glabella | 20.0% | 1/5 |
Telecanthus | 20.0% | 1/5 |
Upslanted palpebral fissure | 20.0% | 1/5 |
Abnormality of the nose | 80.0% | 4/5 |
Broad columella | 60.0% | 3/5 |
Broad nasal tip | 20.0% | 1/5 |
Broad philtrum | 20.0% | 1/5 |
Depressed nasal bridge | 20.0% | 1/5 |
Short philtrum | 20.0% | 1/5 |
Abnormality of the mouth | 25.0% | 1/4 |
Dental crowding | 25.0% | 1/4 |
High palate | 25.0% | 1/4 |
Macroglossia | 25.0% | 1/4 |
Thick vermilion border | 25.0% | 1/4 |
Visual and hearing impairments | ||
Abnormal vision | 40.0% | 2/5 |
Esotropia | 20.0% | 1/5 |
Hypermetropia | 20.0% | 1/5 |
Myopia | 20.0% | 1/5 |
Gastrointestinal | ||
Gastrointestinal abnormalities | 75.0% | 3/4 |
Failure to thrive | 50.0% | 2/4 |
Gastrostomy tube feeding in infancy | 50.0% | 2/4 |
Gastroesophageal reflux | 25.0% | 1/4 |
Vomiting | 25.0% | 1/4 |
Urogenital | ||
Abnormality of the urogenital system | 20.0% | 1/5 |
Bilateral renal hypoplasia | 20.0% | 1/5 |
Bilateral cryptorchidism | 20.0% | 1/5 |
Skeleton | ||
Skeletal abnormalities | 100.0% | 5/5 |
Kyphoscoliosis | 60.0% | 3/5 |
Brachydactyly syndrome | 40.0% | 2/5 |
Proximal placement of thumb | 40.0% | 2/5 |
Abnormality of forearm bone | 20.0% | 1/5 |
Brachycephaly | 20.0% | 1/5 |
Clinodactyly of the 5th toe | 20.0% | 1/5 |
Craniosynostosis | 20.0% | 1/5 |
Decreased hip abduction | 20.0% | 1/5 |
Hip dislocation | 20.0% | 1/5 |
Hip Subluxation | 20.0% | 1/5 |
Knee flexion contracture | 20.0% | 1/5 |
Narrow joint spaces of wrist | 20.0% | 1/5 |
Pes planus | 20.0% | 1/5 |
Short foot | 20.0% | 1/5 |
Small fontanelle | 20.0% | 1/5 |
Small hand | 20.0% | 1/5 |
Ulnar deviation of the wrist | 20.0% | 1/5 |
Vertebral compression fractures | 20.0% | 1/5 |
2-5 finger syndactyly | 20.0% | 1/5 |
Skin / Hair / Nails | ||
Abnormality of the skin/hair/nails | 50.0% | 2/4 |
Bridged palmar crease | 25.0% | 1/4 |
Capillary hemangiomas | 25.0% | 1/4 |
Low posterior hairline | 25.0% | 1/4 |
Supernumerary nipple | 25.0% | 1/4 |
Endocrine / Immunological / Metabolic | ||
Abnormality of the endocrine system | 20.0% | 1/5 |
Decreased plasma carnitine | 20.0% | 1/5 |
Abnormality of the metabolic system | 20.0% | 1/5 |
Osteopenia | 20.0% | 1/5 |