Author:
Robilliard Renee,Caylan Mustafa
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.
Reference10 articles.
1. Micropenis. I. criteria, etiologies and classification;Lee;Johns Hopkins Med J,1980
2. Hereditary Sclerocornea
3. An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature;Õunap;Clin Case Rep,2016
4. An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation;Bouman;Clin Dysmorphol,2015
5. GeneCards – the human gene database, CHRD gene, Copyright © 1996-2019, Weizmann Institute of science. Available: https://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRD
Cited by
3 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献