Al Kaissi Ali, Marrakchi Zahra, Nassib Nabil M, Hofstaetter Jochen, Grill Franz, Ganger Rudolf, Kircher Susanne Gerit
Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital Orthopedic Hospital of Speising, Pediatric Department, Vienna, Austria Department of Neonatology, Charles Nicolle Hospital, Tunisia Department of Pediatric Orthopedic Surgery, Children Hospital of Tunis, Tunisia. Institute of Medical Chemistry, Medical University of Vienna, Austria.
Medicine (Baltimore). 2017 Mar;96(12):e6199. 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.
颅缝早闭是一种以颅骨缝过早融合为特征的疾病，随后会出现异常的颅面轮廓，并伴有各种骨骼和骨骼外异常。在这个家族中，已识别出综合征型颅缝早闭，并诊断出了各种畸形背后的病因。
该疾病对儿童及其家庭的负面影响巨大。尤其是诊断较晚时，能做的事情很少。尽管通过讨论疾病的全貌为家庭提供咨询可能会减轻他们的担忧。
诊断是治疗的基石。在本文中，我们旨在让儿科医生、内科医生和整形外科医生认识到早期识别综合征关联的必要性。
综合征型颅缝早闭患者通常伴有复杂的畸形综合征。如果能早期诊断，颅面外科手术会有显著帮助。这需要一系列矫正措施以避免智力残疾和其他神经功能缺损。干预时机与诊断时机密切相关。
诊断越早，结果越好。从而避免给患者及其家庭带来心理和经济成本。
医学的黄金原则应在所有医学学科中普遍适用，即：见得越多，知道得越多；反之，知道得越多，见得也就越多。
