Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: single causal entity?
Most congenital cutaneous hemangiomas are a sporadic occurrence. Hemangiomas have been found in association with coarctation of the aorta and a right aortic arch. A separate association has been noted of midline ventral defects with hemangiomas. We report on a patient with multiple hemangiomas, coarctation of the aorta and a right aortic arch, a superaumbilical midabdominal raphé and sternal cleft. Our patient represents an overlap between these two conditions. Review of the literature identified four additional patients with a similar combination of anomalies. The clinical overlap between these 5 patients suggests that they are variants of the same conditions and represent a spectrum of defects that includes hemangiomas, midline ventral defects, aortic arch abnormalities and brain malformation.
Kishnani
P
P
Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Iafolla
A K
AK
McConkie-Rosell
A
A
Van Hove
J L
JL
Kanter
R J
RJ
Kahler
S G
SG
D001011:Aorta / Q000002:abnormalities*; D001017:Aortic Coarctation / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D005260:Female; D006391:Hemangioma / Q000151:congenital*; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome