Arbués J, Galindo A, Puente J M, Vega M García, Hernández M, de la Fuente P
Ultrasound and Fetal Physiopathology Unit, Department of Obstetrics and Gynecology, Hospital Universitario 12 de Octubre, Madrid, Spain.
J Matern Fetal Neonatal Med. 2005 Apr;17(4):299-301. doi: 10.1080/14767050500072839.
Ectrodactyly is a rare dominant autosomal malformation with variable expression. Herein we report a case early diagnosed by ultrasound at 15 weeks of gestation of isolated ectrodactyly involving the four limbs. The sonographic findings were bilateral split hands and split foot. Diagnosis of typical isolated ectrodactyly was pathologically confirmed. Clinical forms, pathogenesis, differential diagnosis, and early prenatal diagnosis are discussed.
缺指(趾)畸形是一种罕见的常染色体显性畸形,具有可变表达。在此,我们报告一例在妊娠15周时通过超声早期诊断为孤立性四肢缺指(趾)畸形的病例。超声检查结果为双侧裂手和裂足。典型孤立性缺指(趾)畸形的诊断经病理证实。文中讨论了其临床类型、发病机制、鉴别诊断及早期产前诊断。