Ectodermal abnormalities in Kabuki syndrome

American Journal of Medical Genetics

Volumn 73, Issue 3, 1997, Pages 263-266

  Lerone, Margherita ^a   Priolo, Manuela ^a   Naselli, Arturo ^b   Vignolo, Marina ^b   Romeo, Giovanni ^a   Silengo, Margherita Cirillo ^a,c  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

Author keywords

Absent teeth; Brachydactyly; Conical teeth; Ectodermal dysplasia; Long palpebral fissures; Mental retardation; Niikawa Kuroki syndrome; Short stature; Trichorrhexis nodosa

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRACHYDACTYLY; CASE REPORT; ECTODERMAL DYSPLASIA; FEMALE; HUMAN; HYPODONTIA; INCISOR; KABUKI MAKEUP SYNDROME; MENTAL RETARDATION MALFORMATION SYNDROME; NAIL HYPOPLASIA; PALPEBRAL FISSURE ANOMALY; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE;

ABNORMALITIES, MULTIPLE; ANODONTIA; BONE AND BONES; CHILD; FACE; FEMALE; HAIR; HEARING LOSS, SENSORINEURAL; HUMANS; INCISOR; MENTAL RETARDATION; NAILS, MALFORMED; SYNDROME;

EID: 0030696117     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971219)73:3<263::AID-AJMG6>3.0.CO;2-T     Document Type: Article

References (18)

1. Carcione A, Piro E, Albano S, Corsello G, Benenati A, Piccione M, Verde V, Giuffrè L, Albanese A (1991): Kabuki make-up (Niikawa-Kuroki) syndrome: Clinical and radiological observations in two Sicilian children. Pediatr Radiol 21:428-431.
2. Franceschini P, Vardeu MP, Guala A, Franceschini D, Testa A, Corrias A, Chiabotto P (1993): Lower lip pits and complete precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 47:423-425.
3. Fryns JP, Van den Berghe H, Schrander-Stumpel C (1994): Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4. Am J Med Genet 53:204-220.
4. Galan-Gomez E, Cardesa-Garcia JJ, Campo-Sampedro FM, Salamanca-Maesso C, Martínez-Frías ML, Frías JL (1995): Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. Am J Med Genet 59:276-282.
5. Halal F, Gledhill E, Dudkiewicz A (1989): Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 33:376-381.
6. Ilylina H, Lurie IW, Naumtchik I, Amoashy D, Stephanenko G, Fedotov V, Kostjuk A (1995): Kabuki make-up (Niikuwa-Kuroki) syndrome in the Byelorussian register of congenital malformations: Ten new observations. Am J Med Genet 56:127-131.
7. Iwama Y, Sugiyama S, Kaiga K, Eguchi M, Furukawa T (1987): Kabuki make-up syndrome associated with megaureter. Acta Pediatr Jpn 29: 182-185.
8. Kobayashi O, Sakuragawa N (1996): Inheritance in Kabuki makeup syndrome (Niikawa-Kuroki syndrome). Am J Med Genet 61:92-93.
9. Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I (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 110:750-752.
10. Kuroki Y, Katsumata N, Eguchi T, Fukushima Y, Suwa S, Kajii T (1987): Precocious puberty in Kabuki make-up syndrome. J Pediatr 110:750-751.
11. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kaji T (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.
12. Niikawa N, Kuroki Y, Kajii T (1982): The dermatoglyphic pattern of Kabuki make-up syndrome. Clin Genet 21:315-320.
13. Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Unemoto H, Iwama Y, Kundoh I, Fukushima Y, Nako Y, Matsui I, Urakami T, Aritaki S, Hara M, Suzuki Y, Chyo H, Sugio Y, Hasegawa T, Yamanaka T, Tsukino R, Yoshida A, Nomoto N, Kawahito S, Aihara R, Toyota S, Ieshima A, Funaki H, Ishitobi K, Ogura S, Furumae T, Yoshino M, Tsuji Y, Kondoh T, Matsumoto T, Abe Kyohko, Harada N, Miike T, Ohdo S, Naritomi K, Abushwereb AK, Braun OH, Schmid E (1988): Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients. Am J Med Genet 31: 565-589.
14. Ohdo S, Madokoro H, Sonoda T, Nishiguchi T, Kawaguchi K, Hayakawa K (1985): Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease. J Med Genet 22:126-127.
15. Philip N, Meinecke P, David A, Dean J, Ayme S, Clark R, Gross-Kieselstein E, Hosenfeld D, Moncla A, Muller D, Porteous M, Santos H, Cordeiro I, Selicorni A, Silengo M, Tariverdian G (1992): Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 16 non-Japanese cases. Clin Dysmorphol 1:63-77.
16. Pinheiro M, Freire-Maia N (1994): Ectodermal dysplasias: A clinical classification and a causal review. Am J Med Genet 53:153-162.
17. Schrander-Stumpel G, Meinecke P, Wilson G, Giliessen-Kaesbach G, Tinschert S, Konig E, Philip N, Rizzo R, Schrander J, Pfeiffer L, Maat-Kievit A, van der Burgt I, van Essen T, Latta E, Hillig U, Verloes A, Journel H, Fryns JP (1994): The Kabuki (Niikawa-Kuroki) syndrome: Further delineation of the phenotype in 29 non-Japanese patients. Eur J Pediatr 153:438-445.
18. Silengo M, Lerone M, Seri M, Romeo G (1996): Inheritance of Niikawa-Kuroki (Kabuki make-up syndrome). Am J Med Genet 66:368.