Background/Purpose: Defects in the type II collagen gene are described. These predispose humans to various phenotypic combinations in families with skeletal dysplasia, and/or disease by causing deposits of microcrystals and/or early osteoarthritis and/or synovial osteochondromatosis. Flat vertebra is defined as the vertebrae with flattening of the vertebral body, also with irregular surface or with nodules of Schmorl (flat vertebra), in isolation or two a maximum of two vertebral bodies, to distinguish it from Scheuermann’s disease.

The purpose of this is to demonstrate the possibility of “dorsal flat vertebra” in relation to pathologies associated with type II collagen disorders.

Methods: Patients attending physician since 1994, in whom Type II collagen disease or vertebral dysplasia was suspected, were selected for the study. Their medical history was taken. Also available radiographs, including dorsal lateral spine x-rays, were assessed for a flat vertebra, by triple-observer (two rheumatologists and one radiologist), according to the defined criteria. In all selected patients, a DEXA osteoporosis screening was performed, being both densitometric osteoporosis and chest trauma exclusion criteria.

Results: The 84 patients assessed included 43 women and 41 men, with a mean age of 47.1 years, mean weight of 84.6kg in men and 74.4kg in women, and mean height 168.8cm in men and 159cm in women.

From a radiological and clinical point of view it was obtained:

Atypical arthrosis: 64.3%

Synovial osteochondromatosis: 15.5%

Chondrocalcinosis: 7.1%

Lower Dorsal kyphotic apex: 38.1%,

Calcifying enthesopathies: 4.8%,

Exostoses: 4.8%,

Other calcifications: 20.2%,

Scoliosis: 33.3%,

Family history of flat vertebrae: 3.6%,

Dysplastic Peripheral traits: 27.4%,

Personal history of microcrystalline arthritis: 4.8%.

None developed T score suggesting osteoporosis by DEXA.

Conclusion:

The association of dorsal flat vertebra (according to the defined criteria) is seen as a form of vertebral dysplasia within type II collagen disorders.

All patients or their parents were born in small towns, leading to suspicion in endogamy.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/association-of-dorsal-flat-vertebraplatyspondylia-as-a-form-of-vertebral-dysplasia-within-type-ii-collage-disorders/