AIM: Occurrence of main symptoms and the rate of spontaneous mutations in @entity1 with @entity8927 . METHOD: 24 @entity1 with variable phenotypic expression of @entity8927 were examined symptomatically. The main focus was placed on findings in the shoulder girdle, craniofacial symptoms and alterations in radiologic opacity. RESULTS: The average age of the @entity1 was 18.3 years. In our @entity1 cohort, 58.3% were spontaneous mutations. Abnormal apposition of the shoulders were found in 88% of the @entity1 . Craniofacial symptoms were diagnosed in 88%. An increase of the radiologic skull density was apparent in 95%. CONCLUSION: The expression of this @entity395 is variable and its symptomatology not always apparent. Spontaneous mutations occur frequently. Due to the high prevalence of the considered symptoms, the diagnosing physician should focus on the facial appearance and @entity854 . In cases of ambiguous findings we recommend a consultation of an experienced clinician as well as genetic counseling.

[Symptoms and signs in @entity8927 ( XXXX )].

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity854 :: ('MESH:D018376', 'Disease') :: ['shoulder abnormalities'] @entity395 :: ('MESH:D035583', 'Disease') :: ['rare disorder'] @entity8927 :: ('MESH:D002973', 'Disease') :: ['CCD', 'cleidocranial dysplasia']
@entity8927 :: (MESH:D002973,Disease) :: ['CCD']
