Okpala Boniface Chukwuneme, Echendu Sylvia Tochukwu, Ikechebelu Joseph Ifeanyichukwu, Eleje George Uchenna, Joe-Ikechebelu Ngozi Nneka, Nwajiaku Louis Anayo, Nwachukwu Cyril Emeka, Igbodike Emeka Philip, Nnoruka Mark Chinedu, Okpala Augusta Nkiruka, Ofojebe Chukwuemeka Jude, Umeononihu Osita Samuel
Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University, Awka, Nigeria.
Department of Obstetrics and Gynaecology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria.
SAGE Open Med Case Rep. 2022 Apr 21;10:2050313X221094077. doi: 10.1177/2050313X221094077. eCollection 2022.
Roberts syndrome is a rare genetic disorder characterized by symmetrical reductive limb malformation and craniofacial abnormalities. It is caused by mutation in the "Establishment of cohesion 1 homolog 2" genes, resulting in the loss of acetyltransferase activities and manifesting as premature centromere separation in metaphase chromosomes. The affected individual grows slowly during pregnancy and after birth with associated mild to severe intellectual impairment. We present a 35-year-old multiparous Nigerian lady who had emergency cesarean section at 35 weeks of gestation following abruptio placentae with a live fetus. The baby had poor Apgar score at birth and died shortly afterward. Tetraphocomelia was detected on prenatal ultrasound done at about 24 weeks of gestation with other features sonographically normal. However, clinical diagnosis of severe variant of Roberts syndrome with tetraphocomelia, growth restriction, and craniofacial abnormalities were noted at birth. This case exhibits a very rare variant of Roberts syndrome with tetraphocomelia, intrauterine growth restriction, and craniofacial abnormalities. It also highlights the crucial role of detailed clinical examination and the inherent challenges in making cytogenetic diagnosis in low-income countries.
罗伯茨综合征是一种罕见的遗传性疾病，其特征为肢体对称性发育不全畸形和颅面异常。它由“黏连建立蛋白1同源物2”基因突变引起，导致乙酰转移酶活性丧失，并表现为中期染色体着丝粒过早分离。患病个体在孕期和出生后生长缓慢，并伴有轻度至重度智力障碍。我们报告了一位35岁的尼日利亚经产妇，她在妊娠35周时因胎盘早剥行急诊剖宫产，娩出一名活胎。婴儿出生时阿氏评分低，随后不久死亡。在妊娠约24周时进行的产前超声检查发现了四肢短小畸形，其他超声特征正常。然而，出生时临床诊断为伴有四肢短小畸形、生长受限和颅面异常的罗伯茨综合征严重变异型。该病例展示了一种非常罕见的伴有四肢短小畸形、宫内生长受限和颅面异常的罗伯茨综合征变异型。它还凸显了详细临床检查的关键作用以及低收入国家在进行细胞遗传学诊断时面临的固有挑战。
