منابع مشابه
A case of phace syndrome and acquired hypopituitarism?
BACKGROUND PHACE is a neurocutaneous syndrome associated with: Posterior fossa brain malformations, large "segmental" facial hemangiomas, arterial cerebrovascular-, cardiovascular-, and eye anomalies. CASE VIGNETTE We are reporting a girl with PHACE syndrome. The patient had a congenital right-sided facial hemangioma with plaque-morphology. At age 11 years and 2 months she presented with shor...
متن کاملA Rare Case of Budd Chiari Syndrome in a Child
A 7-year- old male child presented with the complaints of tense abdominal distension and swelling over feet since 1 month. The patient had repeated episodes of similar complaints since last two years with partial or complete relief after taking various forms of allopathic therapy. On imaging, Budd-Chiari syndrome was diagnosed which was hallmarked by occluded Inferior venacava (IVC), caudate lo...
متن کاملPrepubertal Diagnosis of Klinefelter Syndrome: A Rare Case Report
Klinefelter syndrome is characterised by advancing testicular function deterioration causing aspermatogenesis and androgen deficiency. Klinefelter patients characteristically have complete male sex differentiation, and genital anomalies are infrequently associated. Penoscrotal malformations at birth are very rare in this syndrome. Nonetheless, it is important to know the association, as one of...
متن کاملAirway hemangiomas in PHACE syndrome.
OBJECTIVES/HYPOTHESIS To describe the clinical presentation and airway characteristics of infants with airway hemangiomas and concomitant PHACE syndrome and to determine the prevalence of airway hemangiomas in PHACE subjects at our institution. STUDY DESIGN Case series. METHODS Retrospective review including clinical presentation, airway findings, treatment measures, and outcomes. RESULTS...
متن کاملIntracranial infantile hemangiomas associated with PHACE syndrome.
BACKGROUND AND PURPOSE Head and neck infantile hemangiomas are common lesions that are rarely observed in an intracranial location. We report 4 patients with orbital infantile hemangiomas and ipsilateral enhancing intracranial lesions, presumed to be infantile hemangiomas. METHODS Imaging studies and medical records of 4 infants with orbital hemangiomas and enhancing intracranial lesions were...
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ژورنال
عنوان ژورنال: Journal of Pediatric Genetics
سال: 2019
ISSN: 2146-4596,2146-460X
DOI: 10.1055/s-0039-1694705