A5107005579- Vascular Malformations and Hemangiomas
- Vascular Malformations Diagnosis and Treatment
- Vascular Tumors and Angiosarcomas
- Congenital Ear and Nasal Anomalies
- Moyamoya disease diagnosis and treatment
- Soft tissue tumor case studies
- Tumors and Oncological Cases
- Urologic and reproductive health conditions
- Oral and gingival health research
- Gestational Trophoblastic Disease Studies
- Tracheal and airway disorders
Medical College of Wisconsin
2017-2021
University of Rochester
2018
PHACE syndrome is the association of segmental facial hemangiomas with congenital arterial, brain, cardiac, and ocular anomalies. Structural brain malformations affect 41–52% patients can be associated focal neurologic deficits, developmental delays, and/or intellectual disability. To better characterize spectrum structural other intracranial anomalies in syndrome, MRI scans head/neck were retrospectively reviewed 55 from Syndrome International Clinical Registry Genetic Repository. All...
Patients with somatic overgrowth commonly require surgical intervention to preserve function and improve cosmesis. To our knowledge no observation of scarring outcomes in this population has been published date.To observe the frequency abnormal patients sequencing-verified mutations PIK3CA gene.This retrospective study evaluated PIK3CA-related overgrowth. Samples affected tissue were sequenced between July 2015 October 2016. Medical records from multiple large academic tertiary care centers...
Segmental infantile hemangiomas (IH) can be associated with congenital anomalies in a regional distribution. PHACE refers to large cervicofacial segmental IH association of the aortic arch and medium‐sized arteries head neck, as well structural posterior fossa eye. A subset patients have arterial that progress moyamoya vasculopathy (MMV). MMV is defined stenosis supraclinoid segment internal carotid and/or their major branches, subsequent development compensatory collateral vessel network....
A 2010 prospective study of 108 infants estimated the incidence PHACE (posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects, eye anomalies) syndrome to be 31% in children with facial infantile hemangiomas (IHs) at least 22 cm2. There is little evidence regarding associations among IH characteristics, demographic and risk syndrome.