Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes

2018 ◽  
Vol 176 (5) ◽  
pp. 1166-1174 ◽  
Author(s):  
Ivan Ivanovski ◽  
Susan Akbaroghli ◽  
Marzia Pollazzon ◽  
Chiara Gelmini ◽  
Stefano Giuseppe Caraffi ◽  
...  
Keyword(s):  
Hennekam Syndrome ◽  
Van Maldergem Syndrome

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

2014 ◽  
Vol 133 (9) ◽  
pp. 1161-1167 ◽  
Author(s):  
Mariëlle Alders ◽  
Lihadh Al-Gazali ◽  
Isabelle Cordeiro ◽  
Bruno Dallapiccola ◽  
Livia Garavelli ◽  
...  
Keyword(s):  
Hennekam Syndrome ◽  
Van Maldergem Syndrome

Cutaneous Manifestations and Massive Genital Involvement in Hennekam Syndrome

2006 ◽  
Vol 23 (3) ◽  
pp. 239-242 ◽  
Author(s):  
Maria Letizia Musumeci ◽  
Maria Rita Nasca ◽  
Rocco De Pasquale ◽  
Robert A. Schwartz ◽  
Giuseppe Micali
Keyword(s):  
Cutaneous Manifestations ◽  
Hennekam Syndrome

Middle ear abnormalities in Van Maldergem syndrome

2016 ◽  
Vol 173 (1) ◽  
pp. 239-244 ◽  
Author(s):  
Emmy Verheij ◽  
Henricus G. X. M. Thomeer ◽  
Frank A. Pameijer ◽  
Vedat Topsakal
Keyword(s):  
Middle Ear ◽  
Van Maldergem Syndrome

scholarly journals Genetic testing for Hennekam syndrome

2018 ◽  
Vol 2 (s1) ◽  
pp. 16-18
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Matteo Bertelli
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Autosomal Recessive ◽  
Genetic Test ◽  
Autosomal Recessive Inheritance ◽  
Lymphatic Malformation ◽  
Recessive Inheritance ◽  
Test Protocol ◽  
Research Findings ◽  
Hennekam Syndrome

Abstract Hennekam Syndrome (HS) is a combination of congenital lymphatic malformation, lymphangiectasia and other disorders. It is a very rare disorder with autosomal recessive inheritance. We developed the test protocol “Hennekam Syndrome” on the basis of the latest research findings and diagnostic protocols on lymphatic malformation in HS. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Protein-losing gastroenteropathy with facial anomaly and growth retardation: A mild case of Hennekam syndrome

1993 ◽  
Vol 45 (4) ◽  
pp. 477-480 ◽  
Author(s):  
Michiho Yasunaga ◽  
Chutaro Yamanaka ◽  
Mitsufumi Mayumi ◽  
Tohru Momoi ◽  
Haruki Mikawa
Keyword(s):  
Growth Retardation ◽  
Mild Case ◽  
Facial Anomaly ◽  
Hennekam Syndrome

The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome

2021 ◽  
Author(s):  
Eriko Nishi ◽  
Toshiki Takenouchi ◽  
Fuyuki Miya ◽  
Tomoko Uehara ◽  
Kumiko Yanagi ◽  
...  
Keyword(s):  
Japanese Patients ◽  
The Novel ◽  
Hennekam Syndrome

Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: Confirmation of the Hennekam syndrome

1991 ◽  
Vol 40 (2) ◽  
pp. 244-247 ◽  
Author(s):  
Orazio Gabrielli ◽  
Carlo Catassi ◽  
Antonio Carlucci ◽  
Giovanni V. Coppa ◽  
Pierluigi Giorgi
Keyword(s):  
Mental Retardation ◽  
Intestinal Lymphangiectasia ◽  
Hennekam Syndrome
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