SEC24D
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 80.0% | 4/5 |
| Female | 20.0% | 1/5 |
| Indifferent | 0% | 0/5 |
| Unknown | 0% | 0/5 |
| General | ||
| Birth Length abnormalities | 20.0% | 1/5 |
| < P3 : Birth length less than 3rd percentile | 20.0% | 1/5 |
| Birth Weight abnormalities | 20.0% | 1/5 |
| < P3 : Small for gestational age | 20.0% | 1/5 |
| Birth Head circumference abnormalities | 20.0% | 1/5 |
| < P3 : Congenital microcephaly | 20.0% | 1/5 |
| Current Height abnormalities | 60.0% | 3/5 |
| < P3 : Short stature | 60.0% | 3/5 |
| Current Weight abnormalities | 40.0% | 2/5 |
| < P3 : Decreased body weight | 40.0% | 2/5 |
| Current Head circumference abnormalities | 0% | 0/5 |
| Neurology | ||
| Brain abnormality | 50.0% | 1/2 |
| Ventriculomegaly | 50.0% | 1/2 |
| Facial abnormalities | ||
| Abnormality of the ear | 40.0% | 2/5 |
| Abnormality of the pinna | 40.0% | 2/5 |
| Abnormality of the eye | 60.0% | 3/5 |
| Blue sclerae | 40.0% | 2/5 |
| Downslanted palpebral fissures | 40.0% | 2/5 |
| Hypertelorism | 20.0% | 1/5 |
| Proptosis | 20.0% | 1/5 |
| Setting-sun eye phenomenon | 20.0% | 1/5 |
| Abnormality of the nose | 20.0% | 1/5 |
| Abnormality of the nasal bridge | 20.0% | 1/5 |
| Abnormality of the mouth | 60.0% | 3/5 |
| Dentinogenesis imperfecta | 40.0% | 2/5 |
| High palate | 20.0% | 1/5 |
| Microretrognathia | 20.0% | 1/5 |
| Micrognathia | 20.0% | 1/5 |
| Misalignment of teeth | 20.0% | 1/5 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 5/5 |
| Femoral bowing | 60.0% | 3/5 |
| Fractures of the long bones | 60.0% | 3/5 |
| Recurrent fractures | 60.0% | 3/5 |
| Wormian bones | 60.0% | 3/5 |
| Abnormality of skull ossification | 40.0% | 2/5 |
| Osteopenia | 40.0% | 2/5 |
| Abnormality of long bone morphology | 20.0% | 1/5 |
| Abnormality of the thorax | 20.0% | 1/5 |
| Barrel-shaped chest | 20.0% | 1/5 |
| Bowed humerus | 20.0% | 1/5 |
| Craniosynostosis | 20.0% | 1/5 |
| Fractured radius | 20.0% | 1/5 |
| High iliac wings | 20.0% | 1/5 |
| Hypoplastic acetabulae | 20.0% | 1/5 |
| Multiple rib fractures | 20.0% | 1/5 |
| Pectus excavatum | 20.0% | 1/5 |
| Persistent open anterior fontanelle | 20.0% | 1/5 |
| Platyspondyly | 20.0% | 1/5 |
| Posterior wedging of vertebral bodies | 20.0% | 1/5 |
| Scoliosis | 20.0% | 1/5 |
| Short long bone | 20.0% | 1/5 |
| Short neck | 20.0% | 1/5 |
| Thin ribs | 20.0% | 1/5 |
| Vertebral compression fractures | 20.0% | 1/5 |
| Widely patent sagittal suture | 20.0% | 1/5 |
| Widely patent coronal suture | 20.0% | 1/5 |
| Wide anterior fontanel | 20.0% | 1/5 |