A case of femoral-facial syndrome（FFS）diagnosed after birth in an infant with a diabetic mother

DOI
  • Hamaguchi Fumika
    Department of Obstetrics and Gynecology, Japanese Red Cross Wakayama Medical Center
  • Toyofuku Aya
    Department of Obstetrics and Gynecology, Japanese Red Cross Wakayama Medical Center
  • Nakamura Mitsuhiro
    Department of Obstetrics and Gynecology, Kobe City Medical Center General Hospital
  • Nukada Takayuki
    Department of Pediatrics, Japanese Red Cross Wakayama Medical Center
  • Kasuga Maya
    Department of Obstetrics and Gynecology, Japanese Red Cross Wakayama Medical Center
  • Hino Mayo
    Department of Obstetrics and Gynecology, Japanese Red Cross Wakayama Medical Center
  • Yamanishi Megumi
    Department of Obstetrics and Gynecology, Japanese Red Cross Wakayama Medical Center
  • Yamanishi Yukio
    Department of Obstetrics and Gynecology, Japanese Red Cross Wakayama Medical Center
  • Yokoyama Reiko
    Department of Obstetrics and Gynecology, Japanese Red Cross Wakayama Medical Center
  • Yamamura Syogo
    Department of Obstetrics and Gynecology, Japanese Red Cross Wakayama Medical Center
  • Yoshida Takaaki
    Department of Obstetrics and Gynecology, Japanese Red Cross Wakayama Medical Center

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Other Title
  • 出生後にFemoral-facial syndrome（FFS）と判明した糖尿病合併妊娠の1例

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Abstract

<p> Femoral-facial syndrome（FFS）is a rare syndrome characterized by femoral hypoplasia and specific facial features such as upslanting palpebral fissure and micrognathia. FFS has been to be associated with maternal diabetes. We experienced a case of FFS diagnosed in an infant after its birth from a diabetic mother, although skeletal dysplasia was suspected on the basis of severe femoral shortening. The mother was a 37-year-old woman, para 1, who was receiving treatment for type 2 diabetes. Severe femoral shortening and deformity were observed at 19 weeks’ gestation. Based on the low ALP level in the maternal blood test and three-dimensional computed tomographic imaging（3D-CT）at 29 weeks’ gestation, benign hypophosphatasia or type I osteogenesis imperfecta was suspected. A cesarean section was performed at 35 weeks’ gestation. The infant was diagnosed as having FFS on the basis of the specific facial features such as short broad-tipped nose, thin upper lip, long philtrum, and micrognathia, and bilateral femoral hypoplasia and left fibula aplasia. It is important to suspect FFS in a fetus with severe femoral shortening with diabetic mothers and examine its face such as micrognathia.</p>

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