Facial and Skeletal Malformations,Mental Retardation,Aganglionosis,and Neurogenic Muscle Weakness: A Variant of Niikawa-Kuroki Syndrome or a New Syndrome?
Restricted accessResearch articleFirst published online April, 2001
Facial and Skeletal Malformations,Mental Retardation,Aganglionosis,and Neurogenic Muscle Weakness: A Variant of Niikawa-Kuroki Syndrome or a New Syndrome?
We report a 10-year-old boy with multiple congenital anomalies/mental retardation syndrome, who also presented with aganglionosis and neurogenic muscle weakness. Some phenotypic manifestations of our patient overlap with those observed in the Niikawa-Kuroki syndrome; however, the hypothesis of a new distinct entity, with simultaneous involvement of the central and peripheral nervous system, is considered. (J Child Neurol 2001;16:296-298).
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References
1.
Niikawa N., Kuroki Y., Kajii T., et al: Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients . Am J Med Genet1988;31:565-589.
2.
Niikawa N., Matsuura N., Fukushima Y., et al: Kabuki make-up syndrome: A syndrome of MR, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr1981;99:565-569.
3.
Kuroki Y., Suzuki Y., Chyo H., et al: A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr1981;39:570-573.
4.
Schrander-Stumpel C., Meinecke P., Wilson G., et al: The Kabuki (Niikawa-Kuroki) syndrome: Further delineation of the phenotype in 29 non-Japanese patients . Eur J Pediatr1994;153:438-445.
Porter J., Klein VR, Wilson GN, Schneider NR: Gastrointestinal malformation in genetic disorders: A case of partial trisomy 2q with short esophagus and tubular stomach. Clin Pediatr1991;30:559-562.
7.
Webb GC, Keith CG, Campbell NT: Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7) (p21;q22). JMed Genet1988;25:125-127.
8.
Fewtrell MS, Tam PK, Thomson AH, et al: Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2-q21.2): A further link with the neurocristopathies?J Med Genet1994;31:325-327.
9.
Hurst JA, Markiewicz M., Kumar D., Brett EM: Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: A new syndrome of defective neuronal migration. J Med Genet1988;25:494-500.
10.
Clayton-Smith J., Donnai D.: A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis. J Med Genet1989;26: 339-342.
11.
Martino F., D'Eufemia P., Pergola MS, et al: Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. Am J Med Genet1992;44:233-236.
12.
Goldberg RB , Shprintzen RJ: Hirschsprung megacolon and cleft palate in two sibs. J Craniofac Genet Dev Biol198 1 ;1:185-189.
13.
Pul N., Pul M., Gedik Y.: McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheooesophageal fistula: A case report and review of the literature. Am JMed Genet1994;49:341-343.
14.
Verloes A., Elmer C., Lacombe D., et al: Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature. Eur J Pediatr1993;152:75-77.
15.
Gross A., Kunze J., Maier RF, et al: Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. Am J Med Genet1995;56:322-326.
16.
Wallace M., Zori RT, Alley T., et al: Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable disruption of an SLOS gene. Am J Med Genet1994;50:368-374.
17.
Clarke SA, Van der Avoirt A.: Imperforate anus, Hirschsprung's disease, and trisomy 21: A rare combination . J Pediatr Surg1999;34:1874.
18.
Shim WK, Derieg M., Powell BR, Hsia YE: Near-total intestinal aganglionosis in the Waardenburg-Shah syndrome . J Pediatr Surg1999;34: 1853-1855.
19.
Aurora P., Wallis CE: Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. Clin Dysmorphol1999;8: 259-263.
20.
Mathew A.: Anencephaly-associated aganglionosis. Am J Med Genet1998;80:518-520.
21.
Lorda-Sanchez I., Ayuso C., Ibanez A.: Situs inversus and Hirschsprung disease: Two uncommon manifestations in Bardet-Biedl syndrome . Am J Med Genet2000;90:80-81.
22.
Mandel H., Brik R., Ludatscher R., et al: Congenital muscular dystrophy with neurological abnormalities: Association with Hirschsprung disease. Am J Med Genet1993;47:37-40.
23.
Kim JJ, Armstrong DD, Fishman MA: Multicore myopathy, microcephaly, aganglionosis, and short stature . J Child Neurol1994;9: 275-277.
24.
Parano E., Pavone L., Fiumara A., et al: Congenital muscular dystrophies: Clinical review and proposed classification. Pediatr Neurol1995;13: 97-103.
25.
Zeviani M., Bertagnoli B., Uziel G.: Neurological presentations of mitochondrial diseases. J Inherit Metab Dis1996;19:504-520.
