Buyukkayhan Derya, Koklu Esad, Akcakus Mustafa, Kurtoglu Selim
Department of Pediatrics, Division of Neonatology, Erciyes University, Kayseri, Turkey.
J Pediatr Endocrinol Metab. 2007 Oct;20(10):1151-4. doi: 10.1515/jpem.2007.20.10.1151.
Femoral hypoplasia is a rare disorder, with an estimated incidence of 0.11-0.2/10,000 live births. Although the majority of cases are sporadic, a few familial cases have been described. Poor diabetic control, exposure to drugs, viral infections, radiation, focal ischemia and trauma between the 4th and 8th week of gestation have been implicated as possible etiological factors. Femoral hypoplasia with other congenital anomalies was described in children of diabetic mothers. The isolated form is uncommon. We present here two newborns with femoral hypoplasia due to maternal diabetes mellitus. One of them has isolated and unilateral left femoral hypoplasia diagnosed after birth; the other has bilateral femoral hypoplasia and bowing diagnosed by ultrasound at 24 weeks' gestation.
股骨发育不全是一种罕见疾病,估计发病率为每10000例活产中有0.11 - 0.2例。虽然大多数病例为散发性,但也有少数家族性病例的报道。妊娠第4至8周期间糖尿病控制不佳、接触药物、病毒感染、辐射、局部缺血和创伤被认为是可能的病因。糖尿病母亲的子女中曾有股骨发育不全合并其他先天性异常的描述。孤立型并不常见。我们在此报告两例因母亲患糖尿病导致股骨发育不全的新生儿。其中一例出生后诊断为孤立性单侧左股骨发育不全;另一例在妊娠24周时经超声诊断为双侧股骨发育不全并弯曲。