Pediatrics, Baystate Medical Center Children's Hospital, Springfield, Massachusetts, USA
Pediatrics, Baystate Medical Center Children's Hospital, Springfield, Massachusetts, USA.
BMJ Case Rep. 2020 Nov 30;13(11):e233215. doi: 10.1136/bcr-2019-233215.
A very rare syndrome, 3q26.33-3q27. 2 microdeletion, has only been described in seven case reports previously, all of which highlight genotypic and phenotypic variations of the presentations identified in school-aged and adolescent children. The patients in these cases had varying sized deletions but overlapping manifestations. Hallmarks of the deletion include intrauterine growth restriction (IUGR), failure to thrive/feeding difficulty, dysmorphic facial features, delayed dentition, pes planus, intellectual/developmental delay, hypotonia and recurrent infections. This case report aims to document the presentation of 3q26.33-3q27.2 microdeletion in infancy for the first time in the literature. Through early recognition of specific genetic causes for IUGR, such as this microdeletion, we can better anticipate and prepare for the patient's needs in the neonatal period and in the future.
一种非常罕见的综合征，3q26.33-3q27.2 微缺失，此前仅在七例病例报告中描述过，所有这些报告都强调了在学龄期和青春期儿童中发现的基因型和表型变化。这些病例中的患者缺失的大小不同，但表现有重叠。缺失的特征包括宫内生长受限（IUGR）、生长发育不良/喂养困难、面部畸形、出牙延迟、扁平足、智力/发育迟缓、低张力和反复感染。本病例报告旨在首次在文献中记录婴儿期 3q26.33-3q27.2 微缺失的表现。通过早期识别 IUGR 的特定遗传原因，例如这种微缺失，我们可以更好地预测和满足新生儿期和未来患者的需求。
