| Remarks |
Clinically affected; Symptom onset while in the womb (no amniotic fluid); mother was 35 when gave birth to this individual, no amniotic fluid after 32 weeks; dysmorphic features: strabismus as an infant, beaked nasal bridge, wide open mouth, slender/small hands and feet, fetal pads, simian crease; symptoms: absent or sparse speech, clonus, limited walking ability, hypotonia, hypertonia, unstable ataxic gait, defective vision, delayed motor development, incoordination, sleep difficulties, constipation, gastroesophageal reflux, intellectual disability, autism, anxiety, sensory processing disorder; microarray CGH analysis revealed a 7.6 Mb interstitial deletion from 47655826 bp to 55277501 bp of chromosome 18q21.31; assistive devices: wheelchair, orthotics, walker, communication/learning device, glasses; treatment: physical therapy, speech language therapy, occupational therapy, special education services, horse therapy, water therapy, music therapy; medications: senna, suppository. |