我们报告一例自发性罕见出生畸形。一例新生儿中的Amelia和Phocomelia。Amelia是一种罕见的先天性疾病,更重要的是,是新生儿中的amelia和phocomelia。真正的Phycomelia被定义为完全不存在肢体的中间片段。用手或脚(正常,几乎正常,或畸形),直接连接到后备箱。与该病的常见病因关联来自沙利度胺的使用和遗传遗传,作为常染色体隐性特征,涉及8号染色体.分离的amelia通常不被认为是遗传起源的。我们介绍了一个由利比里亚28岁的多人分娩的新生儿,在西非次区域,Amelia累及两个上肢,右下肢和涉及左下肢的Phocomelia(没有胫骨和腓骨以及带有三个脚趾的脚)。非洲是唯一没有纳入出生缺陷监测和研究国际信息交换所的大陆。希望有来自非洲的先天性肢体畸形的病例报告,将有助于很快形成出生缺陷数据库。
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We report a case of spontaneous rare birth deformity. A case of Amelia and
Phocomelia in a neonate. Amelia is a rare congenital disorder, even more so, is the combined amelia and
phocomelia in a neonate. True
Phocomelia was defined as the total absence of the intermediate segments of the limb. With the hand or foot (normal, almost normal, or malformed), directly attached to the trunk. The common aetiological association with
phocomelia is from the use of thalidomide and genetic inheritance, as an autosomal recessive trait, involving chromosome 8. Isolated amelia is not generally considered to be of genetic origin. We present a neonate delivered by a 28-years multipara in Liberia, in West Africa Sub-Region, with amelia involving the two upper limbs, right lower limb and a
Phocomelia involving the left lower limb (absence of tibia and fibula and feet with three toes). Africa is the only continent not included in the International Clearinghouse for Birth Defects Surveillance and Research. It is hoped that case reports of congenital limb deformities from Africa, will contribute to the formation of a database for birth defects shortly.
UNASSIGNED: None declared.