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.

Cerebellar vermis hypoplasia

Underdevelopment of the vermis of cerebellum.


合計: 1

                      


(表示件数)
PMID (PMCID)
8328329
FEMALE
Cerebellar vermis hypoplasia in a case of cri-du-chat syndrome.
De Michele G, Presta M, Di Salle F, Serra L, Mazzaccara A, Della Rocca G, Ambrosio G, Filla A.
Acta Neurol (Napoli). 1993;15(2):92-6.
Cerebellar vermis hypoplasia in a case of cri-du-chat syndrome.