伴有黑棘皮病的克鲁宗综合征：基于病例的最新进展
Crouzon syndrome with acanthosis nigricans: a case-based update.
作者信息
Di Rocco Federico, Collet Corinne, Legeai-Mallet Laurence, Arnaud Eric, Le Merrer Martine, Hadj-Rabia Smail, Renier Dominique
机构信息
Unité de Chirurgie Craniofaciale, Neurochirurgie Pédiatrique Hôpital Necker Enfants Malades, Centre de Référence Maladies rares Dysostoses Craniofaciales, 149 rue de Sèvres, 75015 Paris, France.
出版信息
Childs Nerv Syst. 2011 Mar;27(3):349-54. doi: 10.1007/s00381-010-1347-z. Epub 2010 Dec 7.
BACKGROUND
Crouzon syndrome with acanthosis nigricans also named Crouzono-dermo-skeletal is a clinically and genetically distinct entity. It associates a craniofacial phenotype to anomalies of the skin and long bones. This syndrome is due to a specific mutation in FGFR3 gene that can be identified by genetic testing.
ILLUSTRATIVE CASES
As in our two patients, not all these features might be present and some will be patent only in the infancy or early childhood. Moreover, other organs such as the kidneys might be affected.
DISCUSSION
Because several organs might be affected the recognition of such syndrome is important for a correct management of the patient as well as a proper information and genetic counseling of the families.
背景
伴有黑棘皮病的克鲁宗综合征，也称为克鲁宗-皮肤-骨骼综合征，是一种在临床和遗传上具有独特特征的疾病。它将颅面表型与皮肤和长骨异常联系在一起。该综合征是由FGFR3基因的特定突变引起的，可通过基因检测来识别。
示例病例
正如我们的两名患者一样，并非所有这些特征都会出现，有些特征仅在婴儿期或幼儿期才会明显。此外，其他器官如肾脏也可能受到影响。
讨论
由于多个器官可能受到影响，识别这种综合征对于正确治疗患者以及为家庭提供适当的信息和遗传咨询非常重要。
Zotero 插件