Figueroa Cecilia, Plasencia Walter, Eguiluz Idoya, De Luis Maria, Barber Miguel A, Valle Leonor, García-Hernández Jose A
Department of Obstetrics and Gynaecology, Fetal Medicine Unit, Canaries University Hospital Maternity Ward, Las Palmas de Gran Canaria, Spain.
J Matern Fetal Neonatal Med. 2009 Oct;22(10):936-9. doi: 10.1080/14767050902994606.
The femoral hypoplasia - unusual facies syndrome is a rare disorder, which was described first three decades ago. It is characterised by the occurrence of short femurs with certain associated alterations mainly affecting the face, of which micrognathia is the most frequently found. Although the etiology of this condition is unknown, clear relationship with maternal insulin-dependent diabetes has often been reported, which suggests some sort of inherited component. Nevertheless, most cases occur sporadically. This entity is usually diagnosed after birth because prenatal ultrasound detection is rather difficult. Here, we report a case of prospective detection. So far, such cases have been seldom described in the literature.
股骨发育不全-特殊面容综合征是一种罕见疾病，于三十年前首次被描述。其特征为股骨短小并伴有某些主要影响面部的相关改变，其中小颌畸形最为常见。尽管该病症的病因不明，但经常有报道称其与母亲的胰岛素依赖型糖尿病有明确关联，这提示存在某种遗传因素。然而，大多数病例为散发性。该病症通常在出生后才被诊断出来，因为产前超声检测相当困难。在此，我们报告一例前瞻性检测的病例。迄今为止，此类病例在文献中鲜有描述。
