Hypopituitarism in PHACES Association.
The association consisting of posterior fossal malformations, cervicofacial, hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and sternal clefting, or supraumbilical raphe, refers to the occurrence of congenital structural and vascular anomalies in the presence of a facial hemangioma. We report a patient with this association, growth retardation, and developmental delay who was found to have a partially empty sella turcica, central hypothyroidism, and growth hormone deficiency. Endocrinologic evaluation should be considered in any infant with this association.
Goddard
Deborah S
DS
Harvard Medical School, Boston, Massachusetts, USA.
Liang
Marilyn G
MG
Chamlin
Sarah L
SL
Svoren
Britta M
BM
Spack
Norman P
NP
Mulliken
John B
JB
D020785:Central Nervous System Vascular Malformations; D003388:Cranial Fossa, Posterior / Q000002:abnormalities; D005124:Eye Abnormalities; D005153:Facial Neoplasms / Q000150:complications*; D005260:Female; D006330:Heart Defects, Congenital; D006391:Hemangioma / Q000150:complications*; D006801:Humans; D007018:Hypopituitarism / Q000150:complications*; D007231:Infant, Newborn; D012878:Skin Neoplasms / Q000150:complications*; D013249:Sternum / Q000002:abnormalities; D013577:Syndrome