PHACES syndrome with congenital hypothyroidism.
نویسندگان
چکیده
The acronym PHACE syndrome stands for Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, Eye abnormalities, Sternal clefting and/or a supraumbilical raphe. We report a 20 day old neonate who presented with a large facial hemangioma and Dandy-Walker cyst. This case is unusual because the cyst was detected antenatally and there was associated congenital hypothyroidism, which has been described very rarely with this condition.
منابع مشابه
PHACES syndrome--case report and literature review.
The case of a 2-month-old female infant with PHACES syndrome is reported. PHACES represents a broad spectrum of congenital anomalies, including the following primary features: posterior fossa brain malformations, large facial hemangiomas, arterial anomalies, cardiac defects and aortic coarctation, eye abnormalities, and ventral developmental defects. The literature on this rare condition is rev...
متن کاملThe Importance of Examining Congenital Hypothyroidism in Connection with Congenital Heart Disease: Letter to Editor
Dear Editor-in-Chief: I read and enjoyed your stylish article, "Frequency of Congenital Cardiac Malformations in Neonates with Congenital Hypothyroidism", in relation to heart disease with hypothyroidism. As we know, one of the most commonly associated congenital hypothyroidism disorders is congenital heart disease, which has a significant effect on the recovery of pat...
متن کاملThe cerebral vasculopathy of PHACES syndrome.
BACKGROUND AND PURPOSE PHACES syndrome is a neurocutaneous disorder of unknown etiology. We studied the spectrum of associated congenital and progressive cerebral vascular anomalies. METHODS The medical records of 7 patients with PHACES syndrome were reviewed and combined with an additional 108 PHACES cases identified from the literature. We reviewed the clinical characteristics, calculated t...
متن کاملPHACES syndrome with cataract and Horner’s syndrome: a case report
PHACES syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Cardiac Defects and Coarctation of the Aorta, Eye Abnormalities, and Sternal Abnormalities or Ventral Developmental Defects) is a rare neurocutaneous syndrome, which characteristic feature is large segmental hemangioma. Extracutaneous involvement is an important cause of morbidity in this syndrome.<br /...
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BACKGROUND Sclerocornea, a congenital corneal pathology characterized by bilateral scleralization of the cornea, which can be found in few cases with posterior fossa malformationshemangiomas-arterial anomalies-cardiac defects-eye abnormalities-sternal cleft and supraumbilical raphe (PHACES) syndrome. Presence of vascularization in peripheral cornea and smaller diameter of recipient cornea corre...
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 44 2 شماره
صفحات -
تاریخ انتشار 2007