Infantile presentation of 3q26.33-3q27.2 deletion syndrome
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.
Keywords: congenital disorders; failure to thrive; genetic screening / counselling; neonatal and paediatric intensive care.
Robilliard R, Caylan M. Infantile presentation of 3q26.33-3q27.2 deletion syndrome. BMJ Case Rep. 2020 Nov 30;13(11):e233215. doi: 10.1136/bcr-2019-233215.