Williams syndrome with severe hypercalcaemia

We present an 11-month-old girl child with complaints of constipation, cough, fever, vomiting and growth retardation. On examination, she had facial dysmorphism, hypertension and murmur. The genetic evaluation showed 7q microdeletion specific to Williams syndrome. Abdominal imaging was suggestive of...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Gupta, Vishal, Pandita, Aakash, Panghal, Astha, Kallem, Venkat Reddy
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2018
Assuntos:
Unusual Presentation of More Common Disease/Injury
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6169651/
https://ncbi.nlm.nih.gov/pubmed/30262523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-224513
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