Giant congenital aortic aneurysm with cleft sternum, supraumbilical raph�, and hemangiomatosis: Report and review

Abstract

We report on a child with giant congenital aortic aneurysm, sternal defect, hemangiomas of face, supraumbilical raphé, and review the only two other cases reported to date. Congenital aortic aneurysm is an ominous malformation that has to be systematically searched in children with the sternal malformation/vascular dysplasia complex.

A comparison of disease severity among affected male versus female patients with PHACE syndrome

“…31 Of note, fluorescent in situ hybridization has been used to analyze chromosome 22q11 in two prior PHACE reports, and was unrevealing in both. 23,25 Limitations of this study include its retrospective nature and particularly the limited information available on some new and many previously reported cases. Moreover, unless cases are systematically evaluated for all possible associations, there may be underreporting of PHACE-associated anomalies, and they may be biased toward the specialty in which the cases were published.…”

Thymectomy to achieve primary closure of total sternal cleft

“…The gap between the 2 sternal bars measured up to 3 cm in the upper part. The child presented a supraumbilical raphé (type AB according to Lieber classification) [6], a skin tag on the defect, and an inferior labial hemangioma (Fig. 3).…”

“…As our case shows, these anomalies may belong to the sternal malformation/vascular dysplasia syndrome, sometimes overlapped with the PHACE syndrome (posterior fossa brain abnormalities, hemangiomas, arterial anomalies in the cranial vasculature, coarctation of the aorta/cardiac defects and eye abnormalities), which can be incomplete [8,9]. Sometimes sternal cleft is associated with a supraumbilical raphé, which Leiber classifies into 3 different types [6] as follows: type A, with sternal defect; type B, with hemangiomatosis but without sternal defect; and type AB, with sternal defect and hemangiomatosis. Sternal cleft are more common in females than in males and the latter seem to have less related anomalies and a better prognosis [10].…”

A girl with sternal malformation/vascular dysplasia association

“…Any disturbance that affects the midline mesodermal structures during gestation can lead to incomplete fusion of lateral sternal bands and overlying cutaneous tissue, or deficient formation of a medioventral unpaired structure which may be involved in sternum formation during the sixth to tenth gestational weeks1,7,8). In this process, a developmental field defect may involve the upper abdominal midline, and persistence and proliferation of midline angioblastic tissue may be possible.…”