Screening of Craniocervical abnormalities in Osteogenesis Im
Craniocervical anomalies in osteogenesis imperfecta (OI) can result in significant neurological morbidity, such as basilar invagination or cervical kyphosis. These anomalies may be more common in OI type V than in other OI subtypes with comparable disease severity, emphasizing the significance of screening in this group.

Craniocervical abnormalities in osteogenesis imperfecta (OI) can cause severe neurological morbidity. A retrospective case series on patients with craniocervical abnormalities in OI type V was screened.

Results:
--Craniocervical abnormalities were present in 7 of 37 patients with OI type V. All had genetically confirmed OI type V.

--Age range at diagnosis of the craniocervical abnormality was 1 day to 18 years. Basilar invagination was present in 3 patients; 2 had cervical kyphosis. Dysplasia of upper cervical vertebrae or base of skull was seen in 3 patients.

--The severity of the craniocervical abnormality did not clearly correlate with the severity of the OI phenotype.

--3 patients required surgical intervention (ages 7, 11, and 26 years) due to compression of the spinal cord or brainstem.

--Craniocervical abnormalities were detected incidentally or on screening in 3 patients, and only 2 had significant positive findings on neurological examination.

In conclusion, OI type V has a number of craniocervical anomalies, including cervical vertebral dysplasia. These cases emphasize the significance of screening OI type V patients with lateral skull and cervical spine x-rays throughout infancy and after skeletal maturity.

Source: https://link.springer.com/article/10.1007/s00198-021-06088-x
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