Abstract
This report describes the case of a child with Kabuki syndrome, hypoplastic left heart syndrome, and right-sided partial anomalous pulmonary venous drainage to the inferior vena cava. The child underwent successful Norwood and Glenn palliative procedures. At the age of 9 months, the genetic condition was recognized. This represents the first report describing this combination of findings for Kabuki syndrome.
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Digilio MC, Marino B, Toscano A et al (2001) Congenital heart defects in Kabuki syndrome. Am J Med Genet 100:269–274
Galan-Gomez E, Cardesa-Garcia JJ, Campo-Sampedro FM et al (1995) Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. Am J Med Genet 59:276–282
Hughes HE, Davies SJ (1994) Coarctation of the aorta in Kabuki syndrome. Arch Dis Child 70:512–514
Kawame H, Hannibal MC, Hudgins L et al (1999) Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 134:480–485
Kuroki Y, Suzuki Y, Chyo H et al (1981) A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 99:570–573
Matsumoto N, Niikawa N (2003) Kabuki make-up syndrome: a review. Am J Med Genet 117:57–65
McMahon CJ, Reardon W (2006) The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome. Cardiol Young 16:30–33
Niikawa N, Matsuura N, Fukushima Y et al (1981) Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99:565–569
Niikawa N, Kuroki Y, Kajii T et al (1988) Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 31:565–589
Ohdo S, Madokoro H, Sonoda T et al (1985) Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease. J Med Genet 22:126–127
Schrander-Stumpel CT, Spruyt L, Curfs LM et al (2005) Kabuki syndrome: clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet 132:234–243
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Shahdadpuri, R., Lynch, S.A., Murchan, H. et al. A Novel Constellation of Cardiac Findings for Kabuki Syndrome: Hypoplastic Left Heart Syndrome and Partial Anomalous Pulmonary Venous Drainage. Pediatr Cardiol 29, 820–822 (2008). https://doi.org/10.1007/s00246-008-9197-0
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DOI: https://doi.org/10.1007/s00246-008-9197-0