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Pathology - Cri-du-Chat Syndrome
caused by a chromosome 5p partial deletion.
happens once every 50,000 live births.
severe delays in development; microcephaly; facial deformities (hypertelorism, low-set ears, and micrognathia); inability to thrive; and heart problems (PDA, VSD, ASD, etc.).
The disorder's name originates from the distinctive high-pitched, cat-like howl that patients exhibit.
genetic counseling and supportive treatment.
Williams syndrome is brought on by a 7q chromosomal deletion. In addition to endocrinologic anomalies, it manifests as a slight developmental delay with some autistic symptoms, recurrent otitis media, early cataracts, and failure to thrive.
caused by a chromosome 5p partial deletion.
happens once every 50,000 live births.
severe delays in development; microcephaly; facial deformities (hypertelorism, low-set ears, and micrognathia); inability to thrive; and heart problems (PDA, VSD, ASD, etc.).
The disorder's name originates from the distinctive high-pitched, cat-like howl that patients exhibit.
genetic counseling and supportive treatment.
Williams syndrome is brought on by a 7q chromosomal deletion. In addition to endocrinologic anomalies, it manifests as a slight developmental delay with some autistic symptoms, recurrent otitis media, early cataracts, and failure to thrive.
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