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Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion
Joint Authors
Bellfield, Edward J.
Chan, Jacqueline
Durrin, Sarah
Lindgren, Valerie
Shad, Zohra
Boucher-Berry, Claudia
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-10-24
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome.
Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopituitarism.
While MRI reading initially indicated no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ectopic posterior pituitary.
This case demonstrates how deletion of genetic material, even if resulting in a chromosomal ring, still results in a severe syndromic phenotype.
Furthermore, it demonstrates the necessity of close follow-up in the first year of life for children with 18p deletion syndrome and emphasizes the need to verify radiology impressions if there is any doubt as to the radiologic findings.
American Psychological Association (APA)
Bellfield, Edward J.& Chan, Jacqueline& Durrin, Sarah& Lindgren, Valerie& Shad, Zohra& Boucher-Berry, Claudia. 2016. Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion. Case Reports in Endocrinology،Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100677
Modern Language Association (MLA)
Bellfield, Edward J.…[et al.]. Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion. Case Reports in Endocrinology No. 2016 (2016), pp.1-5.
https://search.emarefa.net/detail/BIM-1100677
American Medical Association (AMA)
Bellfield, Edward J.& Chan, Jacqueline& Durrin, Sarah& Lindgren, Valerie& Shad, Zohra& Boucher-Berry, Claudia. Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion. Case Reports in Endocrinology. 2016. Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100677
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1100677