Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen–Goldberg syndrome: a report on a family over 4 generations. Issue 12 (March 2017)

• Record Type: Journal Article
• Authors: Al Kaissi, Ali; Marrakchi, Zahra; Nassib, Nabil M.; Hofstaetter, Jochen; Grill, Franz; Ganger, Rudolf; Kircher, Susanne Gerit
• Other Names: Mayr. Johannes section editor.
• Is Part Of: Medicine. Volume 96:Issue 12(2017)
• Publication Date: 2017-03
• Subjects: array-CGH-analysis -- case report -- craniosynostosis -- CT scan -- intellectual disability -- Scheuermann's disease -- Shprintzen–Goldberg syndrome; Medicine -- Periodicals; Medicine -- Periodicals; Médecine -- Périodiques; Geneeskunde; Medicine; Periodicals; Periodicals; 610.5
• DOI: 10.1097/MD.0000000000006199
• Languages: English
• ISSNs: 0025-7974

Abstract

Abstract: 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. Patient concerns: The negative impact of the disorder on the child and his family is enormous. Particularly when the diagnosis is late and little can be done. Though counselling the family through discussing the whole picture of the disorder might lessens their concern. Diagnoses: Diagnosis is the corner stone of management. In this paper we aimed to sensitize pediatricians, physicians, and orthopedic surgeons concerning the necessity to recognize syndromic associations early on. Interventions: Patients with syndromic craniosynostosis are usually associated with a complexity of malformation complex. Craniofacial surgery can be of remarkable help if the diagnosis is made early. It requires a series of corrections to avoid intellectual disability and other neurological deficits. The timing of interventions is strongly correlated on the timing of diagnosis. Outcomes: The earliest the diagnoses, the much better the outcomes are. And consequently avert the psychological and the financial cost on the patient and his family. Lessons: The golden principle of medicine should prevail in all medical disciplines, which states: The more you see, the more you know and conversely the more you know is the more you see.