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Pan Afr Med J ; 46: 109, 2023.
Article in French | MEDLINE | ID: mdl-38435407

ABSTRACT

Cri-du-chat syndrome is a rare genetic disorder, due to a deletion of the short arm of chromosome 5 (5p-). Its incidence is ranging from 1/15000 to 1/50000 live births. This was a one-day-old male newborn from a non-consanguineous marriage, the first pregnancy uncomplicated and carried to term with a birth weight of 2295g. Clinical examination revealed: craniofacial dysmorphism with hypertelorism and microcephaly, hypotonia, poor suction and clubfoot more marked on the right, the rest of the examination was unremarkable. During hospitalization, a high-pitched monochromatic cry mimicking a cat's meow was observed. The clinical diagnosis was confirmed by fluorescence in situ hybridization, showing a deletion of the short arm of chromosome 5 (5p15.2). The basic malformative work-up came back without any other abnormalities. The association of a high-pitched monochromatic cry with craniofacial dysmorphism in a newborn should indicate the need for cytogenetic study, in particular fluorescence in siti hybridization.


Subject(s)
Cri-du-Chat Syndrome , Musculoskeletal Abnormalities , Infant, Newborn , Female , Pregnancy , Male , Humans , Cri-du-Chat Syndrome/diagnosis , In Situ Hybridization, Fluorescence , Suction , Muscle Hypotonia
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