Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
JCR Impact Factor (IF) – 1.736
5-Year Impact Factor – 2.135
Index Copernicus  – 168.52
MEiN – 70 pts

ISSN 1899–5276 (print)
ISSN 2451-2680 (online)
Periodicity – monthly

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Advances in Clinical and Experimental Medicine

2013, vol. 22, nr 4, July-August, p. 571–577

Publication type: review article

Language: English

Interdisciplinary Therapy in Cornelia de Lange Syndrome – Review of the Literature

Terapia interdyscyplinarna w zespole Cornelli de Lange – przegląd piśmiennictwa

Emilia Mikołajewska1,

1 Rehabilitation Clinic, Military Clinical Hospital No. 10 and Polyclinic, Bydgoszcz, Poland

Abstract

Cornelia de Lange syndrome (CdLS, also called Brachmann-de Lange syndrome – BdLS) is a multisystem developmental disorder characterized by distinctive facial features, growth and mental retardation, microcephaly, and various malformations. According to their clinical status, patients with CdLS require individual interdisciplinary therapy. The therapy is difficult and mainly symptomatic. To optimize the therapy results, early diagnosis programs and appropriate developmental and therapeutic intervention are recommended. The interdisciplinary approach described in the article needs further clinical research and detailed guidelines.

Streszczenie

Zespół Cornelii de Lange (CdLS, nazywany również zespołem Brachmanna-de Lange – BdLS) jest wielonarządowym schorzeniem rozwojowym charakteryzowanym przez specyficzne cechy twarzy, upośledzenie wzrostu i umysłowe, mikrocefalię oraz różnorodne wady rozwojowe. Z powodu problemów klinicznych pacjenci z CdLS wymagają indywidualnej terapii interdyscyplinarnej. Terapia jest trudna i głównie objawowa. Aby zoptymalizować terapię, rekomenduje się wprowadzenie programów wczesnego wykrywania CdLS oraz niezwłocznego wdrażania właściwej terapii. Opisane w artykule podejście interdyscyplinarne wymaga dalszych badań naukowych oraz szczegółowych wytycznych.

Key words

Cornelia de Lange Syndrome, distinctive facial features, malformations of limbs, therapy, rehabilitation

Słowa kluczowe

zespół Cornelii de Lange, charakterystyczne cechy twarzy, wady rozwojowe kończyn, terapia, rehabilitacja

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