Bouh Ahmed Hared, Nejjari Mouad, Hassan Abdisalam Oumar, Dini Nouzha, Ammari Inssaf Al
Département de Pédiatrie-Néonatologie, Hôpital Universitaire International Mohammed VI, Université Mohammed VI des Sciences et de la Santé, Casablanca, Maroc.
Faculté de Médecine et Pharmacie, Université Mohammed V, Rabat, Maroc.
Pan Afr Med J. 2023 Dec 19;46:109. doi: 10.11604/pamj.2023.46.109.42239. eCollection 2023.
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.
猫叫综合征是一种罕见的遗传性疾病，由于5号染色体短臂缺失（5p-）。其发病率在活产婴儿中为1/15000至1/50000。这是一名来自非近亲结婚家庭的1日龄男婴，首次怀孕无并发症，足月分娩，出生体重2295克。临床检查发现：颅面畸形，表现为眼距增宽和小头畸形，肌张力低下，吸吮力差，右足内翻更明显，其余检查无异常。住院期间，观察到一种类似猫叫的高音单音调哭声。荧光原位杂交证实了临床诊断，显示5号染色体短臂（5p15.2）缺失。基本的畸形检查未发现任何其他异常。新生儿中高音单音调哭声与颅面畸形相关应提示需要进行细胞遗传学研究，尤其是荧光原位杂交。
