Kabuki syndrome and diaphragmatic defect [2]

Indian Pediatrics

Volumn 43, Issue 6, 2006, Pages 552-553

  Sethi, Sidharth K ^a,b   Faridi, M M A ^a  

^a UNIVERSITY COLLEGE OF MEDICAL SCIENCES   (India)

^b NONE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CLINICAL FEATURE; CLINODACTYLY; DERMATOGLYPHICS; DEVELOPMENTAL DISORDER; DIAPHRAGM EVENTRATION; FACE DYSMORPHIA; FAILURE TO THRIVE; GROWTH RETARDATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; KABUKI MAKEUP SYNDROME; LETTER; MALE; MENTAL DEFICIENCY; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; DIAPHRAGM; FACIAL BONES; FAILURE TO THRIVE; GROWTH DISORDERS; HUMANS; INFANT; MALE; MENTAL RETARDATION; SKELETON; SYNDROME;

EID: 33745888404     PISSN: 00196061     EISSN: 00196061     Source Type: Journal    
DOI: None     Document Type: Letter

References (5)

1. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears and postnatal growth deficiency. J Pediatr 1981; 99: 565-569.
2. Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, et al. Neonatal phenotype in Kabuki syndrome. Am J Med Genet 2005; 132A: 244-247.
3. Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. Congenital heart defects in Kabuki Syndrome. Am J Med Genet 2001; 100: 269-274.
4. Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, et al. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet 2005; 132A: 265-272.
5. Donadio A, Garavelli L, Banchini G, Neri G. Kabuki syndrome and diaphragmatic defects: A frequent association in non-Asian patients? Am J Med Genet 2000; 91:164-165.