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Related Experiment Videos

Hypopituitarism in PHACES Association.

Deborah S Goddard1, Marilyn G Liang, Sarah L Chamlin

  • 1Harvard Medical School, Boston, Massachusetts, USA.

Pediatric Dermatology
|October 4, 2006
PubMed
Summary

Facial hemangiomas can signal serious congenital anomalies. Early endocrinologic evaluation is crucial for infants with this rare association to detect growth and hormonal issues.

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Area of Science:

  • Pediatric Endocrinology
  • Medical Genetics
  • Congenital Anomalies

Background:

  • The association describes congenital structural and vascular anomalies linked to facial hemangiomas.
  • It encompasses posterior fossa malformations, cervicofacial hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and sternal clefting or supraumbilical raphe.

Observation:

  • A case report details a patient presenting with this association, alongside growth retardation and developmental delay.
  • The patient was diagnosed with a partially empty sella turcica, central hypothyroidism, and growth hormone deficiency.

Findings:

  • The study highlights a specific patient with a rare congenital anomaly association.
  • Endocrinologic abnormalities, including central hypothyroidism and growth hormone deficiency, were identified in the patient.

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Implications:

  • Endocrinologic evaluation is recommended for all infants diagnosed with this association.
  • Early detection of endocrine dysfunction can guide timely intervention and management in affected infants.