Cabanas Cristine C, Falconi Sirin, Jones Hannah, Subhani Muhammad, Adesanya Olubukunola A
Pediatrics, Texas Tech University Health Sciences Center, Amarillo, USA.
General Surgery, Texas Tech University Health Sciences Center, Lubbock, USA.
Cureus. 2023 May 16;15(5):e39107. doi: 10.7759/cureus.39107. eCollection 2023 May.
Trisomy 21, or Down syndrome (DS), is neonates' most common chromosomal abnormality. In addition, children born with DS have an increased risk of congenital anomalies such as congenital heart defects, gastrointestinal abnormalities, and, rarely, cleft palate. Cleft lip and palate are among the most common congenital anomalies associated with many congenital syndromes; however, Trisomy 21 is the least common congenital anomaly associated with orofacial clefts. We present a case of cleft palate, duodenal stenosis, persistent pulmonary hypertension of the newborn, patent ductus arteriosus, and atrial septal defect in a newborn with classical clinical features of Down syndrome. This report discusses the uncommon presentation of trisomy 21 and concomitant cleft palate in a neonate, including its recognition and treatment, as no standard of care treatment exists.
21三体综合征，即唐氏综合征（DS），是新生儿最常见的染色体异常疾病。此外，患有唐氏综合征的儿童出现先天性异常的风险增加，如先天性心脏缺陷、胃肠道异常，以及罕见的腭裂。唇腭裂是与许多先天性综合征相关的最常见先天性异常之一；然而，21三体综合征是与口面部裂隙相关的最不常见先天性异常。我们报告一例患有唐氏综合征典型临床特征的新生儿，出现腭裂、十二指肠狭窄、新生儿持续性肺动脉高压、动脉导管未闭和房间隔缺损。本报告讨论了新生儿21三体综合征合并腭裂这种不常见的表现，包括其识别和治疗，因为目前尚无标准的治疗方案。
