Fetal Medicine Unit, Department of Obstetrics and Gynecology, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain.
Clinical Genetics Unit, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain.
J Matern Fetal Neonatal Med. 2022 Jun;35(11):2162-2165. doi: 10.1080/14767058.2020.1774541. Epub 2020 Jun 4.
Greig Cephalopolysyndactyly Syndrome (GCPS) is a very rare multiple congenital anomaly with an estimated incidence of 1-9:1,000,000 in newborns with principal findings of macrocephaly, ocular hypertelorism, and polysyndactyly (preaxial or mixed preaxial and postaxial). Very few cases of prenatal diagnoses have been reported. The postnatal diagnosis is based on clinical findings and family background. , the only gene associated with this anomaly, is altered in more than 75% of cases. Deletions over 1 Mb and involving other genes yield severe clinical cases, which are known collectively as Greig Cephalopolysyndactyly-contiguous gene Syndrome. We report a case in which, despite early polydactyly findings on week 16, the diagnosis was established during the third trimester of pregnancy due to the late presentation of other anomalies corresponding to this syndrome.
格雷格头面多肢体综合征（GCPS）是一种非常罕见的多发先天畸形，估计发病率为每 100 万新生儿中有 1-9 例，主要表现为大头畸形、眼球突出和并指（前轴或前轴和后轴混合）。仅有少数产前诊断的病例报告。产后诊断基于临床发现和家族背景。该疾病唯一相关的基因 GLI3 在超过 75%的病例中发生改变。超过 1Mb 的缺失并涉及其他基因导致严重的临床病例，这些病例被统称为格雷格头面多肢体综合征-连续基因综合征。我们报告了一例病例，尽管在第 16 周就发现了多指畸形，但由于其他与该综合征相对应的异常表现较晚，在妊娠晚期才确诊。
