Percentage | Cases | |
---|---|---|
Gender | ||
Male | 100.0% | 18/18 |
Female | 0% | 0/18 |
Indifferent | 0% | 0/18 |
Unknown | 0% | 0/18 |
General | ||
Birth Length abnormalities | 16.7% | 3/18 |
> P98 : Birth length greater than 97th percentile | 16.7% | 3/18 |
Birth Weight abnormalities | 16.7% | 3/18 |
< P3 : Small for gestational age | 5.6% | 1/18 |
> P98 : Large for gestational age | 11.1% | 2/18 |
Birth Head circumference abnormalities | 27.8% | 5/18 |
> P98 : Macrocephaly at birth | 27.8% | 5/18 |
Current Height abnormalities | 27.8% | 5/18 |
> P98 : Tall stature | 16.7% | 3/18 |
< P3 : Short stature | 11.1% | 2/18 |
Current Weight abnormalities | 55.6% | 10/18 |
> P98 : Increased body weight | 44.4% | 8/18 |
< P3 : Decreased body weight | 11.1% | 2/18 |
Current Head circumference abnormalities | 88.9% | 16/18 |
> P98 : Macrocephaly | 88.9% | 16/18 |
Neurology | ||
Neurological abnormalities | 18.2% | 2/11 |
Focal seizures | 9.1% | 1/11 |
Migraine | 9.1% | 1/11 |
Seizures | 9.1% | 1/11 |
Behavioral problems | 85.7% | 12/14 |
Attention deficit hyperactivity disorder | 57.1% | 8/14 |
Aggressive behavior | 28.6% | 4/14 |
Autism | 14.3% | 2/14 |
Shyness | 14.3% | 2/14 |
Autistic behavior | 7.1% | 1/14 |
Brain abnormality | 18.2% | 2/11 |
Arnold-Chiari type I malformation | 9.1% | 1/11 |
Colpocephaly | 9.1% | 1/11 |
Macrocephaly | 9.1% | 1/11 |
Ventriculomegaly | 9.1% | 1/11 |
Facial abnormalities | ||
Abnormality of the ear | 70.0% | 7/10 |
Prominent ear helix | 30.0% | 3/10 |
Cupped ear | 20.0% | 2/10 |
Large earlobe | 10.0% | 1/10 |
Low-set ears | 10.0% | 1/10 |
Macrotia | 10.0% | 1/10 |
Posteriorly rotated ears | 10.0% | 1/10 |
Protruding ear | 10.0% | 1/10 |
Abnormality of the eye | 45.5% | 5/11 |
Deeply set eye | 18.2% | 2/11 |
Thick eyebrow | 18.2% | 2/11 |
Small palpebral fissure | 9.1% | 1/11 |
Strabismus | 9.1% | 1/11 |
Unilateral ptosis | 9.1% | 1/11 |
Abnormality of the nose | 30.0% | 3/10 |
Short nose | 20.0% | 2/10 |
Anteverted nares | 10.0% | 1/10 |
Broad nasal tip | 10.0% | 1/10 |
Narrow nose | 10.0% | 1/10 |
Wide nose | 10.0% | 1/10 |
Abnormality of the mouth | 30.0% | 3/10 |
Non-midline cleft lip | 10.0% | 1/10 |
Short philtrum | 10.0% | 1/10 |
Thick lower lip vermilion | 10.0% | 1/10 |
Thick upper lip vermilion | 10.0% | 1/10 |
Visual and hearing impairments | ||
Abnormal hearing | 9.1% | 1/11 |
Bilateral sensorineural hearing impairment | 9.1% | 1/11 |
Abnormal vision | 10.0% | 1/10 |
Strabismus | 10.0% | 1/10 |
Gastrointestinal | ||
Gastrointestinal abnormalities | 9.1% | 1/11 |
Barrett esophagus | 9.1% | 1/11 |
Urogenital | ||
Abnormality of the urogenital system | 58.3% | 7/12 |
Unilateral cryptorchidism | 33.3% | 4/12 |
Bilateral cryptorchidism | 16.7% | 2/12 |
Cryptorchidism | 8.3% | 1/12 |
Micropenis | 8.3% | 1/12 |
Skeleton | ||
Skeletal abnormalities | 58.3% | 7/12 |
Joint hypermobility | 25.0% | 3/12 |
Brachydactyly syndrome | 8.3% | 1/12 |
Dental crowding | 8.3% | 1/12 |
Hyperextensibility of the finger joints | 8.3% | 1/12 |
Kyphoscoliosis | 8.3% | 1/12 |
Pectus excavatum | 8.3% | 1/12 |
Skin / Hair / Nails | ||
Abnormality of the skin/hair/nails | 27.3% | 3/11 |
Joint laxity | 18.2% | 2/11 |
Facial hemangioma | 9.1% | 1/11 |
Short finger | 9.1% | 1/11 |
Shortening of all distal phalanges of the fingers | 9.1% | 1/11 |
Widened distal phalanges | 9.1% | 1/11 |