Clinical dysmorphology
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Clinical dysmorphology · Jul 2007
Case ReportsParkes Weber syndrome occurring in a family with capillary malformations.
Parkes Weber syndrome is a disorder characterized by cutaneous blush, arteriovenous fistula, and overgrowth of the affected limb. It has been differentiated from Klippel-Trenaunay syndrome on the basis of the presence of arteriovenous fistula that are always absent in the latter. ⋯ There are multiple individuals in the family with capillary malformations inherited in an autosomal dominant pattern. These observations reinforce the suggestions that Parkes Weber syndrome and capillary malformations may share a common pathogenetic pathway.
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Clinical dysmorphology · Oct 2005
Case ReportsA unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations.
PHACES is an acronym for a rare neurocutaneous disorder including the following features: posterior fossa brain malformations; facial hemangiomas; arterial, cardiac, and eye anomalies; and sternal clefts and/or supraumbilical abdominal raphe. Facial hemangiomas are the hallmark of this syndrome. ⋯ She is another example of the combined existence of sternal clefting and carotid abnormalities in PHACES syndrome and even more unique since she does not have an aortic abnormality. This report emphasizes that many different combinations of features may be seen in PHACES syndrome.