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Note the conspicuous increase in interpediculate distance from T12 to L1. Also appreciable is the bilateral hip subluxation.

Mild platyspondyly is observed. Note also the coronal clefts throughout the lumbar region.

A newborn with molecularly confirmed CHST3-related skeletal dysplasia. Note the bilateral dislocation of the knees and radial heads.

Familial hypertrophic cardiomyopathy: Algorithm for genetic testing and clinical cardiac screening
Notes:
1. No important variants detected. Genetic disease cannot be excluded. Consider retesting the person who best meets diagnostic criteria when new genes/tests are available.
2. Provide feedback to genetic testing laboratory regarding results of segregation study.
3. See Table 4. Guidelines for Clinical Screening of Healthy At-Risk Family Members (Note: These guidelines apply both to relatives in whom a pathogenic variant has been identified and to asymptomatic first-degree relatives (adults and children) of an individual with primary HCM in whom a pathogenic variant has not been identified.