Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen–Goldberg syndrome: a report on a family over 4 generations: Case report

• Published in: Medicine (Baltimore) 2017-03, Vol.96 (12), p.e6199-e6199
• Main Authors: Al Kaissi, Ali, Marrakchi, Zahra, Nassib, Nabil M., Hofstaetter, Jochen, Grill, Franz, Ganger, Rudolf, Kircher, Susanne Gerit
• Format: Article
• Language: English
• Subjects: Adult; Arachnodactyly - diagnosis; Arachnodactyly - physiopathology; Child; Clinical Case Report; Craniosynostoses - diagnosis; Craniosynostoses - physiopathology; Diagnosis, Differential; Exophthalmos; Female; Humans; Intellectual Disability - physiopathology; Male; Marfan Syndrome - diagnosis; Marfan Syndrome - physiopathology; Scheuermann Disease - diagnosis; Scheuermann Disease - physiopathology; Syndrome
• ISSN: 0025-7974; 1536-5964
• DOI: 10.1097/MD.0000000000006199

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. 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. 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. 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. 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. 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.