Research Fellow, Associazione Naso Sano, Perugia, Italy.
MGM Medical College Indore (MP), Indore, India.
BMC Pediatr. 2023 Feb 10;23(1):70. doi: 10.1186/s12887-023-03882-w.
Proboscis lateralis (PL) is an uncommon congenital facial deformity marked by the protrusion of a primitive tubular structure made up of skin and soft tissue that generally emerges from the eye's medial canthus and is associated with some craniofacial deformities. We report the first case of PL with multiple craniofacial, neurological, cardiac, and spinal anomalies.
A full-term female baby delivered by cesarean section cried immediately at birth. The mother reported having a normal pregnancy but has a history of x-ray during her first trimester. The baby was born with a rare presentation of proboscis lateralis which was accompanied by multiple anomalies, including but not limited to bilateral colpocephaly, corpus callosum agenesis, complex cyanotic congenital heart disease, and hemivertebra of the T10 body.
PL is an uncommon congenital condition that causes a variety of craniofacial abnormalities. Multiple additional defects affecting various organ systems should also be evaluated in a person diagnosed with PL.
外侧触突（PL）是一种罕见的先天性面部畸形，其特征是突出一个由皮肤和软组织组成的原始管状结构，通常从眼睛的内眼角处伸出，并与一些颅面畸形有关。我们报告首例具有多种颅面、神经、心脏和脊柱异常的 PL 病例。
一名足月女婴通过剖宫产娩出，出生后立即啼哭。母亲报告说妊娠正常，但在孕早期有过 X 光检查史。该婴儿出生时表现出罕见的外侧触突，同时伴有多种异常，包括但不限于双侧脑穿通畸形、胼胝体发育不全、复杂发绀型先天性心脏病和 T10 椎体半椎体。
PL 是一种罕见的先天性疾病，会导致多种颅面畸形。在诊断为 PL 的患者中，还应评估影响多个器官系统的多种其他缺陷。
