Osteogenesis Imperfecta Service information for referrers

The Osteogenesis Imperfecta Service comprises a weekly multi-disciplinary clinic, an outreach service and an inpatient service for drug treatment and therapy interventions. Osteogenesis Imperfecta (OI) is a rare disorder of collagen which commonly presents with spontaneous and unpredictable skeletal fracturing. It is a multi-system disorder which may result in bony deformity, can affect skeletal growth, and may cause pain and low endurance. Dentition and hearing may be affected, and neurological complications can occur.

The OI service aims to support children, their families and local teams where there is a confirmed or suspected diagnosis of OI, offering information and advice on treatment and management from a medical and practical perspective.

The service sees children from birth to 18 years of age. New referrals are accepted for children up to 16 years of age who have a diagnosis or suspected diagnosis of OI. This service is one of four Nationally Commissioned Services for children with rare, severe or complex OI. Patients tend to be mainly from the South East region of the country but those from other regions may be seen.

Referrals can be made to Dr Catherine DeVile, Consultant Paediatric Neurologist and Clinical Lead in the Osteogenesis Imperfecta Service at:

The Wolfson Neurodisability Service
Level 10, Main Nurses Home
Great Ormond Street Hospital
Great Ormond Street
London, WC1N 3JN

Email: gos-tr.neurodisabilityreferrals@nhs.net

All referrals must include written approval from a local paediatrician who can oversee the child’s care.

Prior to acceptance of the referral, further information may be sought. This may include copies of DEXA scans, skeletal surveys and radiology, blood results and outcomes of any genetic consultations or testing, or orthopaedic input.

Direct GP referrals cannot be accepted as this is a tertiary centre.

In severe or complex cases, the team is able to offer a newborn baby outreach visit to Neonatal units and patients homes. Following a visit, a report is sent to the family and relevant members of the local team.

You can contact the Osteogenesis Imperfecta Service on 020 7405 9200 ext 5293