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Pontine hypoplasia in cri-du-chat syndrome: alterations in diffusion tensor imaging.

Corrêa, Diogo Goulart; Ventura, Nina; Gasparetto, Emerson Leandro.

Childs Nerv Syst ; 33(8): 1241-1242, 2017 Aug.

Article in English | MEDLINE | ID: mdl-28676976

Subject(s)

Cri-du-Chat Syndrome/complications , Cri-du-Chat Syndrome/diagnostic imaging , Diffusion Tensor Imaging , Neural Pathways/diagnostic imaging , Pons/diagnostic imaging , Pons/pathology , Child, Preschool , Female , Humans

Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.

Shapiro, Adam J; Weck, Karen E; Chao, Kay C; Rosenfeld, Margaret; Nygren, Anders O H; Knowles, Michael R; Leigh, Margaret W; Zariwala, Maimoona A.

J Pediatr ; 165(4): 858-61, 2014 Oct.

Article in English | MEDLINE | ID: mdl-25066065

ABSTRACT

Cri du chat syndrome (CdCS) and primary ciliary dyskinesia (PCD) are rare diseases that present with frequent respiratory symptoms. PCD can be caused by hemizygous DNAH5 mutation in combination with a 5p segmental deletion attributable to CdCS on the opposite chromosome. Chronic oto-sino-pulmonary symptoms or organ laterality defects in CdCS should prompt an evaluation for PCD.

Subject(s)

Chromosomes, Human, Pair 5/genetics , Cri-du-Chat Syndrome/diagnostic imaging , Cri-du-Chat Syndrome/genetics , Kartagener Syndrome/diagnostic imaging , Kartagener Syndrome/genetics , Mutation , Axonemal Dyneins/genetics , Child , Chromosome Deletion , Chromosome Mapping , Codon , Female , Hemizygote , Humans , Male , Phenotype , Radiography , Respiration Disorders/diagnostic imaging , Respiration Disorders/genetics

Subject(s)

ABSTRACT

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