[Neonatal cri-du-chat syndrome revelead by facial dysmorphism and weak suction: a case report].

Autor: Bouh AH; Département de Pédiatrie-Néonatologie, Hôpital Universitaire International Mohammed VI, Université Mohammed VI des Sciences et de la Santé, Casablanca, Maroc., Nejjari M; Département de Pédiatrie-Néonatologie, Hôpital Universitaire International Mohammed VI, Université Mohammed VI des Sciences et de la Santé, Casablanca, Maroc., Hassan AO; Département de Pédiatrie-Néonatologie, Hôpital Universitaire International Mohammed VI, Université Mohammed VI des Sciences et de la Santé, Casablanca, Maroc., Dini N; Faculté de Médecine et Pharmacie, Université Mohammed V, Rabat, Maroc., Ammari IA; Département de Pédiatrie-Néonatologie, Hôpital Universitaire International Mohammed VI, Université Mohammed VI des Sciences et de la Santé, Casablanca, Maroc.
Jazyk: francouzština
Zdroj: The Pan African medical journal [Pan Afr Med J] 2023 Dec 19; Vol. 46, pp. 109. Date of Electronic Publication: 2023 Dec 19 (Print Publication: 2023).
DOI: 10.11604/pamj.2023.46.109.42239
Abstrakt: 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.
Competing Interests: Les auteurs ne déclarent aucun conflit d´intérêt.
(Copyright: Ahmed Hared Bouh et al.)
Databáze: MEDLINE
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