Lower lip pits and anorectal anomalies in Kabuki syndrome

American Journal of Medical Genetics

Volumn 86, Issue 3, 1999, Pages 282-284

  Kokitsu Nakata, Nancy Mizue ^a   Vendramini, Siulan ^a   Guion Almeida, Maria Leine ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Anorectal anomalies; Ectropion; Kabuki syndrome; Lower lip pits; Mental retardation

Indexed keywords

ANORECTAL MALFORMATION; ARTICLE; BRAZIL; CASE REPORT; CLINICAL EXAMINATION; FACE MALFORMATION; FEMALE; HUMAN; INFANT; KABUKI MAKEUP SYNDROME; LOWER LIP; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ANAL CANAL; CHILD; FACIES; FEMALE; GROWTH DISORDERS; HUMANS; LIP; MENTAL RETARDATION; MICROCEPHALY; RECTUM; SYNDROME;

GENETTA;

EID: 0032878009     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990917)86:3<282::AID-AJMG17>3.0.CO;2-Q     Document Type: Article

References (6)

1. Franceschini P, Vardeu MP, Guala A, Franceschini D, Testa A, Cornas A, Chiabotto P. 1993. Lower lip pits and complete idiopathic precocious puberty in a patient with make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 47:423-425.
2. 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 99:570-573.
3. Matsumura M, Yamada R, Kitani Y, Nishi T, Yamamoto H, Oahama Y, Kuroki Y. 1992. Anorectal anomalies associated with Kabuki make-up syndrome. J Ped Surg 27:1600-1602.
4. Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, Iwama Y, Kondoh I, Fukushima Y, Nako Y, Matsui I, Urakami T, Aritaki S, Kara 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 K, 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.
5. Niikawa N, Matsuura N, Fukushima Y,Ohsawa T, Kajii T. 1981. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protuding ears, and postnatal growth deficiency. J Pediatr 99:565-569.
6. Schrander-Stumpel C, Meinecke P, Wilson G, Gillessen-Kaesbach G, Tinschert S, König R, 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 153:438-45.