Stridor as one of the symptoms of 5p deletion syndrome in a five-month-old child

• Authors: Katarzyna Malicka , Ewa Grochowska-Bohatyrewicz , Aleksandra Pietrzyk , Stecewicz Iwona , Ewa Jaworowska , Maria Giżewska

Abstracts

EN

The 5p deletion syndrome (5p-, Cri-du-chat syndrome, CdCS) is a genetic disorder which results from a partial deletion of the short arm of chromosome 5. It was first described by Lejeune et al. in 1963. The incidence ranges from 1:15 000 to 1:50 000 live births. The 5p- is usually diagnosed in the first days of life because of the characteristic monotonous high pitched cat-like cry and relatively constant dysmorphic features. Other symptoms often present in the neonatal period include low birth weight, muscle hypotonia, asphyxia and feeding difficulties due to impaired suction and swallowing, which may all lead to failure to thrive. Organ malformations, with various larynx abnormalities, although not very frequent, can also be present. Symptoms that are prevalent in later life include severe motor delay and intellectual disability with significant speech impairment, as well as behavioral problems. The case report presents a female infant in her 5th month of life in whom, despite the typical symptoms of 5p-, stridor and episodes of choking were the main problems. Laryngotracheal endoscopy revealed the type I laryngeal cleft. Genetic analysis confirmed the diagnose of 5p- syndrome. The presented case shows that it is critically important to perform a further investigation and refer a child with laryngological problems coexisting with dysmorphic features to a clinical geneticist.

Keywords

EN

5p deletion syndrome; 5p minus syndrom; Cri du Chat syndrome; stridor; larynx malformations; laryngeal cleft

• Publisher: Index Copernicus International
• Journal: Polski Przegląd Otorynolaryngologiczny
• Year: 2017
• Volume: 6(3)
• Pages: 41-46

Dates

published

2017-09-13

Contributors

author

Katarzyna Malicka

author

Ewa Grochowska-Bohatyrewicz

author

Aleksandra Pietrzyk

author

Stecewicz Iwona

author

Ewa Jaworowska

author

Maria Giżewska

Identifiers

DOI

10.5604/01.3001.0010.4233