Frontonasal dysplasia associated with tetralogy of Fallot

M M De Moor, R Baruch, D G Human
1987 Journal of Medical Genetics  
Three children with frontonasal dysplasia associated with tetralogy of Fallot are reported. All cases had true hypertelorism and a median nasal groove with absence of the nasal tip. There was no mental deficiency. The facial anomaly is a sporadic, non-genetic interference of the normal development of the face. This is the first report of frontonasal dysplasia associated with a cardiac defect. Multifactorial inheritance of this syndrome is proposed. Review of published reports has yielded more
more » ... has yielded more than 70 cases of frontonasal dysplasia. De Meyer' termed this anomaly median facial cleft syndrome and in a review of 33 cases recognised the variable clinical combinations and severity of the syndrome. There is always true hypertelorism with variations ranging from an absent nasal tip to anterior cranium bifidum occultum and a median cleft palate. Cardiac abnormalities associated with frontonasal dysplasia sequence have not previously been reported.2 3 We report three cases of frontonasal dysplasia associated with tetralogy of Fallot. Case reports CASE 1 A white female child (fig 1) presented to the Cardiology Service at six months when a cardiac murmur was noted on routine examination. She was the product of a normal pregnancy and there was no maternal illness or unusual drug intake during this pregnancy. She was delivered by Wrigley's forceps for delay in the second stage of labour. There were no complications from the delivery and normal Apgar scores were noted. There was one sib in the family who was entirely normal and there were no other family members with any facial abnormalities.
doi:10.1136/jmg.24.2.107 fatcat:alnscmyqhvbaphprl6sqownrne