The study suggests that the tree-layer non-muscular pharyngeal closure with inferior pharyngeal constrictor unsutured is the preferable method to prevent pharyngo-esophageal spasm after total laryngectomy. However, the efficacy and safety of this surgical procedure should be explored in further multicenter studies.
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.
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