Lacarrubba-Flores Maria Dora Jazmin, Carvalho Daniel Rocha, Ribeiro Erlane Marques, Moreno Carolina Araujo, Esposito Ana Carolina, Marson Fernando Augusto Lima, Loureiro Thereza, Cavalcanti Denise Pontes
Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas [Unicamp], Campinas, São Paulo, Brazil.
Perinatal Genetic Program, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas [Unicamp], Campinas, São Paulo, Brazil.
Am J Med Genet A. 2018 Sep;176(9):1917-1928. doi: 10.1002/ajmg.a.40425. Epub 2018 Aug 2.
Femoral-facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by micrognathia, cleft palate, and other minor dysmorphisms. The evaluation of 14 unpublished Brazilian patients, prompted us to make an extensive literature review comparing both sets of data. From 120 previously reported individuals with FFS, 66 were excluded due to: not meeting the inclusion criteria (n = 21); not providing sufficient data to ascertain the diagnosis (n = 29); were better assigned to another diagnosis (n = 3); and, being fetuses of the second trimester (n = 13) due to the obvious difficult to confirm a typical facies. Clinical-radiological and family information from 54 typical patients were collected and compared with the 14 new Brazilian patients. The comparison between the two sets of patients did not show any relevant differences. Femoral involvement was most frequently hypoplasia, observed in 91.2% of patients, and the typical facies was characterized by micrognathia (97%), cleft palate (61.8%), and minor dysmorphisms (frontal bossing 63.6%, short nose 91.7%, long philtrum 94.9%, and thin upper lip 92.3%). Clubfoot (55.9%) was commonly observed. Other observed findings may be part of FFS or may be simply concurrent anomalies since maternal diabetes is a common risk factor. While maternal diabetes was the only common feature observed during pregnancy (50.8%), no evidence for a monogenic basis was found. Moreover, a monozygotic discordant twin pair was described reinforcing the absence of a major genetic factor associated with FFS.
股骨面综合征（FFS，OMIM 134780），也称为股骨发育不全-特殊面容综合征，是一种与母亲患糖尿病相关的罕见散发性综合征，包括股骨发育不全/发育不全和以小颌畸形、腭裂及其他轻微畸形为特征的独特面容。对14例未发表的巴西患者的评估促使我们进行广泛的文献综述，比较两组数据。在之前报道的120例FFS患者中，66例被排除，原因如下：不符合纳入标准（n = 21）；未提供足够数据以确定诊断（n = 29）；更适合归为另一种诊断（n = 3）；以及处于孕中期的胎儿（n = 13），因为明显难以确认典型面容。收集了54例典型患者的临床放射学和家族信息，并与14例新的巴西患者进行比较。两组患者之间的比较未显示任何相关差异。股骨受累最常见的是发育不全，在91.2%的患者中观察到，典型面容的特征为小颌畸形（97%）、腭裂（61.8%）和轻微畸形（额部突出63.6%、短鼻91.7%、长人中94.9%、薄上唇92.3%）。马蹄内翻足（55.9%）常见。其他观察到的发现可能是FFS的一部分，也可能只是并发畸形，因为母亲患糖尿病是一个常见的危险因素。虽然母亲患糖尿病是孕期观察到的唯一常见特征（50.8%），但未发现单基因基础的证据。此外，描述了一对单卵双胎不一致的双胞胎，进一步证明与FFS相关的主要遗传因素不存在。
