Monosomy 5p

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

Round face

The facial appearance is more circular than usual as viewed from the front.


合計: 1

                       


（表示件数）
PMID (PMCID)
7422065
 FEMALE Infant
[A case of "cri-du-chat" syndrome with meningomyelocele (author's transl)].
Mita R, Moriyama T, Sekiya T, Takebe Y.
No Shinkei Geka. 1980;8(8):761-5.
At the time of admission to our service, she showed typical symptoms of "cri-du-chat" syndrome, namely, characteristic cry, mental retardation (DQ was 48), microcephaly (head circumference was 34.5 cm), rounded face, hypertelorism, oblique palpebral fissures, epicanthus, low-set ears, micrognathia, short neck, simian crease.