Facial naevus flammeus with choroidal haemangioma and without intracranial involvement

Madlom, M M; Hoggard, Nigel; Griffiths, PD; Chan, Jessica

doi:10.1017/s0012162203210252

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2003

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“…Although it is debatable, patients with isolated leptomeningeal angiomas are accepted as SWS. In contrary, whether patients with facial port-wine stain and ocular findings that are seen in SWS patients, as our patient with portwine stain and retinal vascular tortuosity, can be accepted as having SWS is not clear [Madlom et al, 2003].…”

Section: Discussionmentioning

confidence: 72%

Pulmonary atresia/ventricular septal defect associated with facial port‐wine stain and retinal vascular abnormality: A new constellation?

Tan

Ceviz

Baykal

et al. 2003

American J of Med Genetics Pt A

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A case with pulmonary atresia/ventricular septal defect associated with port-wine stain and retinal vascular abnormality is reported. Clinical findings were similar to both PHACE syndrome and Sturge-Weber syndrome (SWS). But, the most frequent and well-known features of both syndromes were absent. So, it could not be concluded whether this is a new constellation or an incomplete form of one of the two syndromes. In both situations, presence of a complex congenital heart disease that has not been reported previously makes this case original.

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Section: Discussionmentioning

confidence: 72%