Ghanta Prasanthi R, Phatak Suresh, Bhansali Pratik J, Unadkat Bhavik S, Goyal Nidhi
Radiodiagnosis, Datta Meghe Institute of Medical Sciences, Wardha, IND.
Obstetrics and Gynecology, Datta Meghe Institute of Medical Sciences, Wardha, IND.
Cureus. 2022 Jul 27;14(7):e27375. doi: 10.7759/cureus.27375. eCollection 2022 Jul.
Alobar holoprosencephaly is a congenital malformation that results from failure of the forebrain/prosencephalon to divide into right and left halves. Despite the literature on the genetic and chromosomal abnormalities associated with this condition, information on additional causes and explanations for variability in phenotypic expressivity are lacking. We report a case of early-onset intrauterine growth retardation with alobar holoprosencephaly, ethmocephaly, and hydronephrosis diagnosed on antenatal ultrasonography in a 27-year-old primigravida with no known risk factors or family history. The combination of holoprosencephaly with associated midline facial anomalies and the genitourinary abnormality, in this case, constitutes a rare phenotypic presentation. This case emphasizes the importance of antenatal ultrasonography in the early detection of lethal anomalies like alobar holoprosencephaly. The pregnancy was safely terminated in accordance with the mother's decision.
无脑叶全前脑畸形是一种先天性畸形，由前脑/原脑未能分裂为左右两半所致。尽管有关于与这种情况相关的基因和染色体异常的文献，但关于其他病因以及表型表达变异性的解释的信息却很缺乏。我们报告了一例在一名27岁初产妇中诊断出的早发性宫内生长迟缓合并无脑叶全前脑畸形、鼻筛骨发育不全和肾积水的病例，该产妇无已知危险因素或家族病史。在这个病例中，全前脑畸形与相关中线面部异常和泌尿生殖系统异常的组合构成了一种罕见的表型表现。该病例强调了产前超声检查在早期发现如无脑叶全前脑畸形等致死性异常方面的重要性。根据母亲的决定，妊娠被安全终止。
