Department of Neonatology, King Saud Medical City, Riyadh, Saudi Arabia.
Azerbaijan Medical University, Baku, Azerbaijan.
Am J Case Rep. 2020 Jun 3;21:e923341. doi: 10.12659/AJCR.923341.
BACKGROUND Heterotaxy is a syndrome of abnormal arrangement of the internal thoracic-abdominal structures across the left-right axis of the body. It is a primary disorder with 2 main settings - bilateral left sidedness (polysplenia syndrome) or right sidedness (asplenia syndrome) - although some overlapping or uncertainties may occur. Patients with right heterotaxy typically present with asplenia, complex heart disease, and other thoracoabdominal organ situs abnormalities. CASE REPORT We present a unique case of congenital asplenia syndrome with complex heart disease, annular pancreas, and other extra-heterotaxic anomalies (e.g., musculoskeletal) in the form of a radius aplasia and partial syndactyly of the thumb and index finger of the left hand. These associated anomalies have not been reported before. CONCLUSIONS This case shows the need for paying increased attention to the implications of other extracardiac anomalies that can be associated with heterotaxy syndrome.
异构症是一种体内胸部-腹部结构在身体的左右轴线上异常排列的综合征。它是一种主要疾病，有 2 个主要设定——双侧左侧（多脾综合征）或右侧（无脾综合征）——尽管可能会出现一些重叠或不确定的情况。患有右异构症的患者通常表现为无脾、复杂心脏病和其他胸腹部器官位置异常。
我们呈现了一个独特的先天性无脾综合征病例，该病例伴有复杂的心脏病、环状胰腺和其他异位畸形（例如，肌肉骨骼），表现为桡骨发育不全和左手拇指和食指的部分并指。这些相关的畸形以前没有报道过。
这个病例表明需要更加注意可能与异构症综合征相关的其他心脏外异常的影响。
