Mujahed Ramzi H, Shaheen Manal M, Abusafa Ikram M, Shahin Amenah G, Bouzieh Ethar A, Baniodeh Bushra S, Asaad Hamda L
Faculty of Medicine, Palestine Polytechnic University, Hebron, Palestine.
Department of Pediatrics, Hebron Governmental Hospital, Hebron, Palestine.
SAGE Open Med Case Rep. 2024 Nov 13;12:2050313X241298868. doi: 10.1177/2050313X241298868. eCollection 2024.
Congenital hiatal hernia is a rare congenital defect and often occurs at a sporadic basis, but familial cases have also been reported. Here, we report on a 3-year-old male patient of Middle-Eastern descent, diagnosed at 5 months of age patient presenting with a congenital hiatal hernia, vermis hypoplasia manifested by axial hypotonia and horizontal nystagmus, preauricular tag, and dysmorphic features with negative genetic mutations, not fitting any reported association or syndrome, suggesting the potential existence of a novel disease entity and highlighting the necessity for further exploration into rare genetic conditions for comprehensive patient care and syndrome characterization.
先天性食管裂孔疝是一种罕见的先天性缺陷，通常呈散发性发生，但也有家族性病例的报道。在此，我们报告一名3岁中东裔男性患者，该患者在5个月大时被诊断为患有先天性食管裂孔疝、以轴性肌张力减退和水平性眼球震颤表现的小脑蚓部发育不全、耳前赘生物以及具有阴性基因突变的畸形特征，不符合任何已报道的关联或综合征，提示可能存在一种新的疾病实体，并强调有必要进一步探索罕见的遗传疾病情况，以实现全面的患者护理和综合征特征描述。
