Living with Osteogenesis imperfecta, perinatal lethal
The most severe type of osteogenesis imperfecta, with many broken ribs and long bones at birth.
Understanding Osteogenesis imperfecta, perinatal lethal
Babies have multiple rib and long bone fractures at birth, marked bone deformities, broad long bones, a low-density skull on X-ray, and dark whites of the eyes. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Multiple fractures present at birth
- Multiple rib fractures
- Small chest (thoracic hypoplasia)
- Crumpled or bowed long bones
- Skull bones not hardened (absent ossification of calvaria)
- Short limbs
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Osteogenesis Imperfecta Foundation, Children's Brittle Bone Foundation and Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Osteogenesis Imperfecta Foundation, Children's Brittle Bone Foundation, Little People of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Osteogenesis Imperfecta Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It can be inherited in an autosomal dominant way, where one changed copy can be enough, or an autosomal recessive way, where a child inherits a changed copy from each parent.
Also known as: lethal osteogenesis imperfecta; neonatal lethal osteogenesis imperfecta congenita; oi type 2; oi, type ii; oi2; osteogenesis imperfecta congenita
Patient organizations
- Osteogenesis Imperfecta FoundationOsteogenesis imperfecta, perinatal lethal · United States
- Children's Brittle Bone FoundationOsteogenesis imperfecta, perinatal lethal · United States
- Little People of AmericaOsteogenesis imperfecta, perinatal lethal · United States
You are more than your diagnosis
Perspectives from people navigating life with Osteogenesis imperfecta, perinatal lethal.
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