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Infantile presentation of 3q26.33-3q27.2 deletion syndrome
  1. Renee Robilliard and
  2. Mustafa Caylan
  1. Pediatrics, Baystate Medical Center Children's Hospital, Springfield, Massachusetts, USA
  1. Correspondence to Dr Renee Robilliard; Renee.RobilliardDO{at}baystatehealth.org

Abstract

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.

  • genetic screening / counselling
  • congenital disorders
  • failure to thrive
  • neonatal and paediatric intensive care

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Footnotes

  • Contributors RR was the paediatric resident who did primary literature review and is the author of this case report. MC reviewed the available literature and edited the manuscript. Both RR and MC personally cared for this patient during his in-patient course in the roles of paediatric resident and paediatric attending physician, respectively.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer-reviewed.

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