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患有腓骨发育不全、胫骨弯曲和少指(趾)畸形综合征的新生男婴:一例新病例报告,使该病症受到关注。

Newborn Male With Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome: A New Case Report Putting the Condition Under Spotlight.

作者信息

Georgeos Marian K, Elgzzar Dina R

机构信息

Neonatal Intensive Care Unit, Ain Shams General Hospital, Cairo, EGY.

出版信息

Cureus. 2022 Jan 28;14(1):e21702. doi: 10.7759/cureus.21702. eCollection 2022 Jan.

Abstract

The syndrome of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome) is a rare genetic disease that has been increasingly reported over the past 40 years. We report the case of a newborn boy with unilateral skeletal abnormalities that were evident clinically and radiologically. The baby was an infant of a diabetic mother, and the Egyptian parents were consanguineous with a strong family history of genetic diseases and congenital anomalies. Besides describing a new case report of this syndrome, we emphasize the importance of prenatal diagnosis and genetic counseling, especially for families at high risk for genetic diseases in developing countries.

摘要

腓骨发育不全、胫骨弯曲和少指(趾)畸形综合征(FATCO综合征)是一种罕见的遗传性疾病,在过去40年中报告日益增多。我们报告了一例临床和放射学检查均显示单侧骨骼异常的男婴病例。该婴儿为糖尿病母亲所生,埃及籍父母为近亲结婚,有很强的遗传疾病和先天性异常家族史。除了描述该综合征的一例新病例报告外,我们强调产前诊断和遗传咨询的重要性,特别是对于发展中国家有遗传疾病高风险的家庭。

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