Congenital lymphatic dysplasia in kabuki syndrome: First report of an unusual association

Guido Morcaldi, F. Boccardo, C. Campisi, T. Bellini, D. Massocco, E. Bonioli

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Kabuki syndrome was first described in Japan in 1981 as a rare disorder of unknown cause. Its main features include characteristic fades, postnatal growth retardation, and mental delay. To date, there is no molecular marker for Kabuki syndrome, which is considered genetically heterogeneous and still is a clinically-based diagnosis. Here we describe the first case of a patient affected by Kabuki syndrome associated with lymphatic dysplasia. We suggest accurate evaluation of all Kabuki patients as early as possible in order to diagnose lymphedema or other clinical manifestations of lymphatic system involvement. Early identification of lymphatic system maldevelopment provides the best chance for reducing the risk of developing progressive lymphedema with associated tissue changes (fibrosis, sclerosis, and fat deposition).

Original languageEnglish
Pages (from-to)188-191
Number of pages4
JournalLymphology
Volume43
Issue number4
Publication statusPublished - Dec 2010

Fingerprint

Lymphatic System
Lymphedema
Sclerosis
Intellectual Disability
Japan
Fibrosis
Fats
Growth
Kabuki syndrome

Keywords

  • Congenital lymphatic disorders
  • Kabuki syndrome
  • Lymphedema
  • Lymphscintigraphy
  • Niikama-kuroki syndrome

ASJC Scopus subject areas

  • Immunology and Allergy
  • Hematology

Cite this

Morcaldi, G., Boccardo, F., Campisi, C., Bellini, T., Massocco, D., & Bonioli, E. (2010). Congenital lymphatic dysplasia in kabuki syndrome: First report of an unusual association. Lymphology, 43(4), 188-191.

Congenital lymphatic dysplasia in kabuki syndrome : First report of an unusual association. / Morcaldi, Guido; Boccardo, F.; Campisi, C.; Bellini, T.; Massocco, D.; Bonioli, E.

In: Lymphology, Vol. 43, No. 4, 12.2010, p. 188-191.

Research output: Contribution to journalArticle

Morcaldi, G, Boccardo, F, Campisi, C, Bellini, T, Massocco, D & Bonioli, E 2010, 'Congenital lymphatic dysplasia in kabuki syndrome: First report of an unusual association', Lymphology, vol. 43, no. 4, pp. 188-191.
Morcaldi G, Boccardo F, Campisi C, Bellini T, Massocco D, Bonioli E. Congenital lymphatic dysplasia in kabuki syndrome: First report of an unusual association. Lymphology. 2010 Dec;43(4):188-191.
Morcaldi, Guido ; Boccardo, F. ; Campisi, C. ; Bellini, T. ; Massocco, D. ; Bonioli, E. / Congenital lymphatic dysplasia in kabuki syndrome : First report of an unusual association. In: Lymphology. 2010 ; Vol. 43, No. 4. pp. 188-191.
@article{8e180b9604994af0a02241887d39b37d,
title = "Congenital lymphatic dysplasia in kabuki syndrome: First report of an unusual association",
abstract = "Kabuki syndrome was first described in Japan in 1981 as a rare disorder of unknown cause. Its main features include characteristic fades, postnatal growth retardation, and mental delay. To date, there is no molecular marker for Kabuki syndrome, which is considered genetically heterogeneous and still is a clinically-based diagnosis. Here we describe the first case of a patient affected by Kabuki syndrome associated with lymphatic dysplasia. We suggest accurate evaluation of all Kabuki patients as early as possible in order to diagnose lymphedema or other clinical manifestations of lymphatic system involvement. Early identification of lymphatic system maldevelopment provides the best chance for reducing the risk of developing progressive lymphedema with associated tissue changes (fibrosis, sclerosis, and fat deposition).",
keywords = "Congenital lymphatic disorders, Kabuki syndrome, Lymphedema, Lymphscintigraphy, Niikama-kuroki syndrome",
author = "Guido Morcaldi and F. Boccardo and C. Campisi and T. Bellini and D. Massocco and E. Bonioli",
year = "2010",
month = "12",
language = "English",
volume = "43",
pages = "188--191",
journal = "Lymphology",
issn = "0024-7766",
publisher = "International Society of Lymphology",
number = "4",

}

TY - JOUR

T1 - Congenital lymphatic dysplasia in kabuki syndrome

T2 - First report of an unusual association

AU - Morcaldi, Guido

AU - Boccardo, F.

AU - Campisi, C.

AU - Bellini, T.

AU - Massocco, D.

AU - Bonioli, E.

PY - 2010/12

Y1 - 2010/12

N2 - Kabuki syndrome was first described in Japan in 1981 as a rare disorder of unknown cause. Its main features include characteristic fades, postnatal growth retardation, and mental delay. To date, there is no molecular marker for Kabuki syndrome, which is considered genetically heterogeneous and still is a clinically-based diagnosis. Here we describe the first case of a patient affected by Kabuki syndrome associated with lymphatic dysplasia. We suggest accurate evaluation of all Kabuki patients as early as possible in order to diagnose lymphedema or other clinical manifestations of lymphatic system involvement. Early identification of lymphatic system maldevelopment provides the best chance for reducing the risk of developing progressive lymphedema with associated tissue changes (fibrosis, sclerosis, and fat deposition).

AB - Kabuki syndrome was first described in Japan in 1981 as a rare disorder of unknown cause. Its main features include characteristic fades, postnatal growth retardation, and mental delay. To date, there is no molecular marker for Kabuki syndrome, which is considered genetically heterogeneous and still is a clinically-based diagnosis. Here we describe the first case of a patient affected by Kabuki syndrome associated with lymphatic dysplasia. We suggest accurate evaluation of all Kabuki patients as early as possible in order to diagnose lymphedema or other clinical manifestations of lymphatic system involvement. Early identification of lymphatic system maldevelopment provides the best chance for reducing the risk of developing progressive lymphedema with associated tissue changes (fibrosis, sclerosis, and fat deposition).

KW - Congenital lymphatic disorders

KW - Kabuki syndrome

KW - Lymphedema

KW - Lymphscintigraphy

KW - Niikama-kuroki syndrome

UR - http://www.scopus.com/inward/record.url?scp=79952299977&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79952299977&partnerID=8YFLogxK

M3 - Article

C2 - 21446574

AN - SCOPUS:79952299977

VL - 43

SP - 188

EP - 191

JO - Lymphology

JF - Lymphology

SN - 0024-7766

IS - 4

ER -