The clinical phenotype and genetic diagnosis of a rare cutis laxa syndrome in a newborn with multiple anomalies

Česká verzia

Authors: Lenhartová Nina ¹; Kršiaková Jana ¹; Maťašová Katarína ²; Zibolen Mirko ²
Authors place of work: Oddelenie lekárskej genetiky, Univerzitná nemocnica Martin ¹; Neonatologická klinika JLF UK a Univerzitná nemocnica Martin ²
Published in the journal: Čes-slov Pediat 2022; 77 (4): 226-231.
Category: Case Report
doi: https://doi.org/10.55095/CSPediatrie2022/037

Summary

De Barsy syndrome, also known as cutis laxa type III (ARCL3), is a rare genetic syndrome with autosomal recessive inheritance pattern, characterised by dysmorphic facial features, progeroid appearance, stretchy wrinkly skin, prenatal and postnatal growth retardation and intellectual disability, along with eye anomalies, atethoid movements and hyperreflexia. With many of its symptoms manifesting at birth, it should be considered when a clinical geneticist is confronted with progeroid appearance in a neonate. The diagnostic algorithm includes assessment of the clinical phenotype as the child develops, testing for micro- and submicroscopic chromosomal aberrations and specific DNA analysis of genes selected based on clinical phenotype and the attending clinical geneticist’s experience. In this report, we present a case of a newborn with multiple anomalies and progeroid appearance, along with an overview of their clinical phenotype and describing the diagnostic process.

Keywords:

cutis laxa – de Barsy syndrme – neonatal progeroid syndrome – PYCR1

Zdroje

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