Craniosynostosis, Scheuermannʼs disease, and intellectual disability resembling Shprintzen–Goldberg syndrome: a report on a family over 4 generations

2017 
Rationale: Craniosynostosis is a disorder characterized by premature fusion of cranial sutures with subsequent development of abnormal craniofacial contour associated with variable skeletal and extra-skeletal abnormalities. In this family syndromic type of craniosynostosis was recognized and the etiology behind diverse forms of deformities have been diagnosed.
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