Percentage | Cases | |
---|---|---|
Gender | ||
Male | 100.0% | 20/20 |
Female | 0% | 0/20 |
Indifferent | 0% | 0/20 |
Unknown | 0% | 0/20 |
General | ||
Birth Length abnormalities | 15.0% | 3/20 |
> P98 : Birth length greater than 97th percentile | 15.0% | 3/20 |
Birth Weight abnormalities | 20.0% | 4/20 |
< P3 : Small for gestational age | 5.0% | 1/20 |
> P98 : Large for gestational age | 15.0% | 3/20 |
Birth Head circumference abnormalities | 25.0% | 5/20 |
> P98 : Macrocephaly at birth | 25.0% | 5/20 |
Current Height abnormalities | 30.0% | 6/20 |
> P98 : Tall stature | 20.0% | 4/20 |
< P3 : Short stature | 10.0% | 2/20 |
Current Weight abnormalities | 60.0% | 12/20 |
> P98 : Increased body weight | 50.0% | 10/20 |
< P3 : Decreased body weight | 10.0% | 2/20 |
Current Head circumference abnormalities | 90.0% | 18/20 |
> P98 : Macrocephaly | 90.0% | 18/20 |
Neurology | ||
Neurological abnormalities | 30.8% | 4/13 |
Delayed speech and language development | 7.7% | 1/13 |
Delayed fine motor development | 7.7% | 1/13 |
Focal seizures | 7.7% | 1/13 |
Generalized hypotonia | 7.7% | 1/13 |
Global developmental delay | 7.7% | 1/13 |
Intellectual disability | 7.7% | 1/13 |
Migraine | 7.7% | 1/13 |
Seizures | 7.7% | 1/13 |
Behavioral problems | 87.5% | 14/16 |
Attention deficit hyperactivity disorder | 56.3% | 9/16 |
Aggressive behavior | 31.3% | 5/16 |
Autism | 12.5% | 2/16 |
Autistic behavior | 12.5% | 2/16 |
Shyness | 12.5% | 2/16 |
Brain abnormality | 15.4% | 2/13 |
Arnold-Chiari type I malformation | 7.7% | 1/13 |
Colpocephaly | 7.7% | 1/13 |
Macrocephaly | 7.7% | 1/13 |
Ventriculomegaly | 7.7% | 1/13 |
Facial abnormalities | ||
Abnormality of the ear | 58.3% | 7/12 |
Prominent ear helix | 25.0% | 3/12 |
Cupped ear | 16.7% | 2/12 |
Large earlobe | 8.3% | 1/12 |
Low-set ears | 8.3% | 1/12 |
Macrotia | 8.3% | 1/12 |
Posteriorly rotated ears | 8.3% | 1/12 |
Protruding ear | 8.3% | 1/12 |
Abnormality of the eye | 53.8% | 7/13 |
Deeply set eye | 15.4% | 2/13 |
Small palpebral fissure | 15.4% | 2/13 |
Thick eyebrow | 15.4% | 2/13 |
Abnormality of the eyebrow | 7.7% | 1/13 |
Strabismus | 7.7% | 1/13 |
Unilateral ptosis | 7.7% | 1/13 |
Abnormality of the nose | 33.3% | 4/12 |
Anteverted nares | 16.7% | 2/12 |
Short nose | 16.7% | 2/12 |
Broad nasal tip | 8.3% | 1/12 |
Narrow nose | 8.3% | 1/12 |
Wide nose | 8.3% | 1/12 |
Abnormality of the mouth | 33.3% | 4/12 |
Narrow mouth | 8.3% | 1/12 |
Non-midline cleft lip | 8.3% | 1/12 |
Short philtrum | 8.3% | 1/12 |
Thick upper lip vermilion | 8.3% | 1/12 |
Thick lower lip vermilion | 8.3% | 1/12 |
Visual and hearing impairments | ||
Abnormal hearing | 7.7% | 1/13 |
Bilateral sensorineural hearing impairment | 7.7% | 1/13 |
Abnormal vision | 16.7% | 2/12 |
Strabismus | 8.3% | 1/12 |
Gastrointestinal | ||
Gastrointestinal abnormalities | 7.7% | 1/13 |
Barrett esophagus | 7.7% | 1/13 |
Urogenital | ||
Abnormality of the urogenital system | 50.0% | 7/14 |
Unilateral cryptorchidism | 28.6% | 4/14 |
Bilateral cryptorchidism | 14.3% | 2/14 |
Cryptorchidism | 7.1% | 1/14 |
Micropenis | 7.1% | 1/14 |
Skeleton | ||
Skeletal abnormalities | 57.1% | 8/14 |
Joint hypermobility | 21.4% | 3/14 |
Abnormality of the thumb | 7.1% | 1/14 |
Adducted thumb | 7.1% | 1/14 |
Brachydactyly syndrome | 7.1% | 1/14 |
Dental crowding | 7.1% | 1/14 |
Hyperextensibility of the finger joints | 7.1% | 1/14 |
Kyphoscoliosis | 7.1% | 1/14 |
Large hands | 7.1% | 1/14 |
Pectus excavatum | 7.1% | 1/14 |
Skin / Hair / Nails | ||
Abnormality of the skin/hair/nails | 23.1% | 3/13 |
Joint laxity | 15.4% | 2/13 |
Facial hemangioma | 7.7% | 1/13 |
Short finger | 7.7% | 1/13 |
Shortening of all distal phalanges of the fingers | 7.7% | 1/13 |
Widened distal phalanges | 7.7% | 1/13 |
Neoplasia | ||
Neoplasia | 7.7% | 1/13 |
Leukemia | 7.7% | 1/13 |