Percentage | Cases | |
---|---|---|
Gender | ||
Male | 40.0% | 2/5 |
Female | 60.0% | 3/5 |
General | ||
Birth Length abnormalities | 0% | 0/0 |
Birth Weight abnormalities | 0% | 0/1 |
Birth Head circumference abnormalities | 0% | 0/0 |
Current Height abnormalities | 100.0% | 5/5 |
< P3 : Short stature | 100.0% | 5/5 |
Current Weight abnormalities | 80.0% | 4/5 |
< P3 : Decreased body weight | 80.0% | 4/5 |
Current Head circumference abnormalities | 100.0% | 5/5 |
< P3 : Microcephaly | 80.0% | 4/5 |
> P98 : Macrocephaly | 20.0% | 1/5 |
Neurology | ||
Neurological abnormalities | 50.0% | 1/2 |
Generalized hypotonia | 50.0% | 1/2 |
Brain abnormality | 100.0% | 2/2 |
Asymmetric ventricles | 100.0% | 2/2 |
Corpus callosum atrophy | 50.0% | 1/2 |
Skull asymmetry | 50.0% | 1/2 |
Facial abnormalities | ||
Abnormality of the ear | 100.0% | 2/2 |
Low-set ears | 100.0% | 2/2 |
Small earlobe | 50.0% | 1/2 |
Abnormality of the eye | 100.0% | 2/2 |
Hypertelorism | 100.0% | 2/2 |
Prominent epicanthal folds | 100.0% | 2/2 |
Ptosis | 50.0% | 1/2 |
Strabismus | 50.0% | 1/2 |
Abnormality of the nose | 100.0% | 2/2 |
Short nose | 100.0% | 2/2 |
Depressed nasal bridge | 50.0% | 1/2 |
Abnormality of the mouth | 100.0% | 1/1 |
Tented upper lip vermilion | 100.0% | 1/1 |
Skeleton | ||
Skeletal abnormalities | 100.0% | 5/5 |
Dysharmonic delayed bone age | 100.0% | 5/5 |
Overlapping toe | 100.0% | 5/5 |
Short femoral neck | 100.0% | 5/5 |
Short fourth metatarsal | 100.0% | 5/5 |
Coxa vara | 80.0% | 4/5 |
Craniosynostosis | 80.0% | 4/5 |
Genu varum | 80.0% | 4/5 |
Platyspondyly | 80.0% | 4/5 |
Scoliosis | 80.0% | 4/5 |
Genu valgum | 40.0% | 2/5 |
Thoracolumbar scoliosis | 40.0% | 2/5 |
Abnormality of the tibial metaphysis | 20.0% | 1/5 |
Abnormality of femoral epiphysis | 20.0% | 1/5 |
Abnormality of the skull | 20.0% | 1/5 |
Disproportionate short-trunk short stature | 20.0% | 1/5 |
Distal femoral bowing | 20.0% | 1/5 |
Fibroma | 20.0% | 1/5 |
Flattened femoral head | 20.0% | 1/5 |
Flat occiput | 20.0% | 1/5 |
Hyperextensibility of the finger joints | 20.0% | 1/5 |
Hyperlordosis | 20.0% | 1/5 |
Limited elbow extension | 20.0% | 1/5 |
Malar flattening | 20.0% | 1/5 |
Narrow pelvis bone | 20.0% | 1/5 |
Osteopenia | 20.0% | 1/5 |
Patellar subluxation | 20.0% | 1/5 |
Pointed hand bones | 20.0% | 1/5 |
Rocker bottom foot | 20.0% | 1/5 |
Short metacarpal | 20.0% | 1/5 |
Short neck | 20.0% | 1/5 |
Thoracic platyspondyly | 20.0% | 1/5 |