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Titolo:
Unexpected life-threatening complications in Kabuki syndrome
Autore:
van Haelst, MM; Brooks, AS; Hoogeboom, J; Wessels, MW; Tibboel, D; de Jongste, JC; den Hollander, JC; Bongers-Schokking, JJ; Niermeijer, MF; Willems, PJ;
Indirizzi:
Erasmus Univ, Dept Clin Genet, NL-3016 AH Rotterdam, Netherlands Erasmus Univ Rotterdam Netherlands NL-3016 AH AH Rotterdam, Netherlands Univ Hosp Dijkzigt, Sophia Childrens Hosp, Dept Pediat Surg, NL-3015 GD Rotterdam, Netherlands Univ Hosp Dijkzigt Rotterdam Netherlands NL-3015 GD tterdam, Netherlands Sophia Childrens Hosp, Dept Pediat Resp Med, Rotterdam, Netherlands SophiaChildrens Hosp Rotterdam Netherlands Med, Rotterdam, Netherlands Univ Hosp Dijkzigt, Dept Pathol, NL-3015 GD Rotterdam, Netherlands Univ Hosp Dijkzigt Rotterdam Netherlands NL-3015 GD tterdam, Netherlands Med Day Care Ctr Myosotis, Rotterdam, Netherlands Med Day Care Ctr Myosotis Rotterdam Netherlands Rotterdam, Netherlands
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 2, volume: 94, anno: 2000,
pagine: 170 - 173
SICI:
0148-7299(20000911)94:2<170:ULCIKS>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
NIIKAWA-KUROKI-SYNDROME; MAKE-UP-SYNDROME; DOMINANT INHERITANCE; MENTAL-RETARDATION; ANOMALIES; MANAGEMENT; EARS;
Keywords:
bronchus anomaly; congenital diaphragmatic hernia; extrahepatic biliary atresia; Kabuki syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: van Haelst, MM Erasmus Univ, Dept Clin Genet, Westzeedijk 112, NL-3016 AH Rotterdam, Netherlands Erasmus Univ Westzeedijk 112 Rotterdam Netherlands NL-3016 AH
Citazione:
M.M. van Haelst et al., "Unexpected life-threatening complications in Kabuki syndrome", AM J MED G, 94(2), 2000, pp. 170-173

Abstract

Kabuki syndrome is a rare multiple congenital anomalies/mental retardationsyndrome comprising a distinct facial appearance and fetal fingertip pads. We observed two patients with Kabuki syndrome and describe unusual life-threatening complications, including stenosis of the central airways (not previously reported), extrahepatic biliary atresia, and congenital diaphragmatic hernia. (C) 2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/09/20 alle ore 18:09:13