Marles Sandra L, Reed Martin, Evans Jane A
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
Am J Med Genet A. 2003 Jan 1;116A(1):85-9. doi: 10.1002/ajmg.a.10731.
Humeral "bifurcation" due to humeroradial synostosis, and amelia are both very rare limb anomalies. We report on a Canadian. Aboriginal boy with both these limb deficiencies. The family history was unremarkable, but he was exposed prenatally to cocaine at the time of limb development. Humeroradial synostosis with ulnar aplasia has been reported by several authors. The majority of cases are unilateral. When both upper limbs arms are involved, cases with oligodactyly often have asymmetrical limb deficiencies and have all been sporadic to date. Some appear to represent cases of the femur-fibula-ulna or FFU complex. Affected individuals with normal hands usually have symmetrical defects and show an autosomal recessive pattern of inheritance. Limb deficiencies have been reported in several infants exposed prenatally to cocaine and have been inducible in animal models. Most are terminal transverse defects or deficiencies of middle digits. When more than one limb is involved, the defects are usually asymmetric. Our case appears to be one of the most severely affected children reported to date.
由于桡肱关节融合导致的肱骨“分叉”和无肢畸形都是非常罕见的肢体异常。我们报告了一名患有这两种肢体缺陷的加拿大原住民男孩。家族史无异常，但他在肢体发育时产前接触过可卡因。几位作者报告过伴有尺骨发育不全的桡肱关节融合。大多数病例是单侧的。当上肢双臂都受累时，少指畸形的病例通常有不对称的肢体缺陷，且迄今为止均为散发病例。有些似乎代表股骨-腓骨-尺骨或FFU综合征病例。手部正常的受影响个体通常有对称的缺陷，并表现出常染色体隐性遗传模式。已有报道称，数名产前接触过可卡因的婴儿出现肢体缺陷，并且在动物模型中可诱导产生。大多数是末端横向缺陷或中间手指的缺陷。当多个肢体受累时，缺陷通常是不对称的。我们的病例似乎是迄今为止报告的受影响最严重的儿童之一。
