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.

Epicanthus

A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.


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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.