García V Daniel, Aragón V Carlos R, Treviño A M Guadalupe, Rivera S Gerardo
División de Ciencias de la Salud, Universidad de Monterrey, San Pedro Garza García, NL, México.
División de Ciencias de la Salud, Universidad de Monterrey, San Pedro Garza García, NL, México; Laboratorio de Ingeniería Tisular y Medicina Regenerativa, Universidad de Monterrey, San Pedro Garza García, NL, México.
Rev Chil Pediatr. 2016 Jan-Feb;87(1):59-62. doi: 10.1016/j.rchipe.2015.08.005. Epub 2015 Oct 9.
Femoral hypoplasia-unusual facies syndrome is a rare disease with variable expressivity, although cases have been reported with an autosomal dominant pattern. It particularly affects the structures of the face associated with hypoplasia of the femur. Its aetiology is relatively unknown. However, this syndrome has been associated with maternal diabetes, drug exposure, viral infections, radiation, and oligohydramnios.
The case of a newborn with this syndrome is presented.
Newborn of 41 weeks gestation with small nose, thin upper lip, micrognathia, long philtrum, low set ears, epicanthal folds, dysplastic hips showing flexion, and adduction of the right leg, and shortening at the expense of the thigh. X-ray images revealed femoral hypoplasia and dysplastic acetabular roof. Different physicians from other specialties who excluded other associated malformations performed a complete evaluation. Surgical bone lengthening of lower limb is scheduled at 5 months of age, with the purpose that she walks with her own feet; at the same time she began management with kinesiotherapy.
Femoral hypoplasia-unusual facies syndrome is a rare condition. A multidisciplinary health care team must treat individuals with femoral hypoplasia-unusual facies syndrome.
股骨发育不全-特殊面容综合征是一种罕见疾病，具有可变的表达性，尽管已有常染色体显性遗传模式的病例报道。它特别影响与股骨发育不全相关的面部结构。其病因相对不明。然而，该综合征与母亲糖尿病、药物暴露、病毒感染、辐射和羊水过少有关。
介绍一例患有该综合征的新生儿病例。
一名孕41周的新生儿，有小鼻子、薄上唇、小颌畸形、人中长、低位耳、内眦赘皮、发育不良的髋关节，表现为右腿屈曲、内收，大腿缩短。X线图像显示股骨发育不全和髋臼顶发育不良。来自其他专科的不同医生排除了其他相关畸形后进行了全面评估。计划在患儿5个月大时进行下肢手术延长，目的是使其能够独立行走；同时开始进行运动疗法。
股骨发育不全-特殊面容综合征是一种罕见疾病。必须由多学科医疗团队对股骨发育不全-特殊面容综合征患者进行治疗。
