Darouich Sihem, Amraoui Jihen, Amraoui Naima
Fetopathology Unit, University Hospital Habib Bougatfa, 7000 Bizerte, Tunisia.
Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Radiol Case Rep. 2019 Aug 14;14(10):1276-1282. doi: 10.1016/j.radcr.2019.08.001. eCollection 2019 Oct.
Femoral-facial syndrome (FFS) is a congenital disorder, characterized by facial dysmorphism and femoral hypoplasia. We describe the prenatal ultrasound and autopsy findings of FFS in 2 female fetuses born to diabetic mothers. Prenatal ultrasound showed micrognathia, low-set dysplastic ears and very short femora. Autopsy also demonstrated cleft palate, hypoplastic genitalia and visceral malformations including interventricular communication and posthemorrhagic hydrocephalus. Histologic study showed hyperplasia of the islets of Langerhans and femoral cartilage abnormalities. The growth plate displayed poor columnar organization of the growth plate with small zones of chondrocyte hypertrophy. Our case reports and the previously published cases of FFS allow discussing the variable expression of this challenging condition, its strong association with maternal diabetes mellitus and the main differential diagnoses.
股面综合征（FFS）是一种先天性疾病，其特征为面部畸形和股骨发育不全。我们描述了2例糖尿病母亲所生女性胎儿的FFS产前超声及尸检结果。产前超声显示小颌畸形、低位发育异常的耳朵和极短的股骨。尸检还发现腭裂、生殖器发育不全以及包括室间交通和出血后脑积水在内的内脏畸形。组织学研究显示胰岛增生和股骨软骨异常。生长板显示生长板柱状结构不佳，软骨细胞肥大区域较小。我们的病例报告以及之前发表的FFS病例有助于探讨这种具有挑战性疾病的可变表现、其与母亲糖尿病的强关联以及主要鉴别诊断。
