PDF(Pubmed)
Abstract：
Bonneau or cardio-ducto-polysyndactyly syndrome is an extremely rare, life-threatening developmental defect, which has only been reported in eight patients previously. Here, we describe one such case of Bonneau syndrome in a newborn with additional novel manifestations. This late preterm (35 weeks of gestation) neonate born to parents of consanguineous marriage following a pregnancy complicated by polyhydramnios was symmetrically small for date at birth (<3rd centile for weight, length, and occipitofrontal circumference). She had the typical Bonneau syndrome features such as facial dysmorphism and polysyndactyly in addition to novel eye manifestations (microphthalmia, cataract, and vitreous hemorrhage) and cardiac defects such as D-transposition of the great arteries and pulmonary valve stenosis. The chromosomal study was normal (46, XX). The multiple congenital anomalies made the cardiac defects inoperable, and the patient died at the age of 16 days due to uncontrolled cardiac failure. A very high index of suspicion is required by pediatricians/neonatologists to identify this very rare syndrome based on presentation with known features.
摘要：
Bonneau或心血管多指综合征极为罕见，危及生命的发育缺陷，以前仅在8名患者中报道过。这里,我们描述了新生儿Bonneau综合征的一例，并有其他新的表现。妊娠合并羊水过多的近亲父母所生的晚期早产（妊娠35周）新生儿在出生时的日期是对称的小（体重<3百分位数，长度,和枕额叶围)。除新颖的眼部表现外，她还具有典型的Bonneau综合征特征，例如面部畸形和多合并症（小眼症，白内障,和玻璃体出血）和心脏缺陷，例如大动脉的D转位和肺动脉瓣狭窄。染色体研究正常（46，XX）。多种先天性异常使心脏缺陷无法手术，患者在16日龄时死于未控制的心力衰竭。儿科医生/新生儿学家需要非常高的怀疑指数，以根据具有已知特征的表现来识别这种非常罕见的综合征。
