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.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
22193390
 OTHER Child
Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities.
Basinko A, Giovannucci Uzielli ML, Scarselli G, Priolo M, Timpani G, De Braekeleer M.
Eur J Med Genet. 2012;55(2):112-6.
The patient presented signs such as microcephaly, hypertelorism, micrognathia and epicanthal folds, partially recalling those of a deletion of the short arm of chromosome 5 and the "cri-du-chat" syndrome.
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.