We report a 1 month boy with absent manubrium sternii, hypopigmented dimple and coarctation of aorta. This combination of clinical features has been described as incomplete presentation of the sternal malformation/vascular dysplasia syndrome. However, there is an overlap with features of PHACES syndrome. The combination of clinical features presented in the case has not been mentioned in literature till date.
HershJH, WaterfillD, RutledgeJ, HarodMJ, OshealSF, VerdiG. Sternal malformation/vascular dysplasia association. Am J Med Genet1985; 21: 201–202.
2.
SanchezO, NastasiJ, EcalonaJA, GuerraD.The hemangioma –sternum bifidum malformation syndrome; Report of a patient. Invest Clin2001; 42: 211–215.
3.
KishnaniP, lafollaAK, McConkie-RosellA, Van HoveJL, KanterRJ, KahlerSG.Hemangioma, supraumbilical midline raphe, and coarctation of the aorta with a right aortic arch: single causal entity?Am J Med Genet1995; 59: 44–48.
4.
CrisponiG, MarrasAR, CorriasA, MemoL, GorivatiM, FloraPG.Two patients with varying combinations of sternal cleft, hemangiomas, midline abdominal raphe, coarctation of the aorta with a right aortic arch. Clin Dysmorphol2000; 9(2): 103–106.
5.
YapicioghiH, NarliN, SatarM, SoyupakS, KuchukosmangluO.A new born infant with sternal malformation/ vascular dysplasia association. Genet Couns2002; 13(1): 35–39.
6.
RogerES, Judith GoslinHall. Human Malformations and Related Anomalies. US: Oxford University Press, 2006.
7.
CotrillCM, TamarenJ and HallB.Sternal defects associated with congenital and pericardial and cardiac defects. Cardiology in the Young1998; 8: 100–104.
8.
VermeerS, Van OostromCG, BoetasC, VerripsA and KnoresNV.A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and sternal malformation- vascular dysplasia association are part of same spectrum of malformation. Clini Dysmorphology2005; 125: 203–206.
9.
MetryDW, DowdCF, BarkovichAJ, FriedenIJ.The many faces of PHACE syndrome. J Pediatr2001; 139: 117–23.
10.
JamesPA, McGaughranJ.Complete overlap of PHACE syndrome and sternal malformation–vascular dysplasia association. Am J Med Genet2002; 110: 78–84.
11.
FriedenIJ, ReeseV, CohenD.PHACE syndrome:The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol1996; 132: 307–311.
12.
GorlinRJ, KantaputraP, AughtonDJ, MullikenJB.Marked female predilection in some syndromes associated with facial hemangiomas. Am J Med Genet1994; 52: 130–135.
