Osteogenesis imperfecta congenita- microcephaly- and cataracts
Overview
A rare genetic connective tissue disorder charactedrized by blue sclerae, cataracts and microcephaly - a lethal form of osteogenesis imperfecta.
Symptoms
* Small head * Cataracts * Prenatal bone fractures * Blue sclerae * Short long bones
Diagnosis
Home medical testing related to Osteogenesis imperfecta congenita, microcephaly, and cataracts: * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests
Treatment
* Neurology (Brain/CNS Specialists): o Neurology (Brain/CNS Specialists) o Pediatric Neurology (Child Brain Specialist) o Pediatric Neurosurgery (Child Neurosurgeon) o Clinical Neurophysiology o Neurodevelopment Disabilities o Neurosurgery o Neuromusculoskeletal Medicine o Neuroradiology o Vascular Neurology o Neuropathology o Otology / Neurotology (Ear/Hearing Specialists) * Eye Health Specialists (Ophthalmology): o Ophthalmology (Eye Specialist)