Results 41 to 50 of about 3,083 (188)

A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings

Global Medical Genetics, 2022
Geroderma osteodysplasticum (GO; MIM 231070) is characterized by a typical progeroid facial appearance, wrinkled, lax skin, joint laxity, skeletal abnormalities with variable degree of osteopenia, frequent fractures, scoliosis, bowed long bones ...
Maha Alotaibi, Deema Aldhubaiban, Ahmed Alasmari, Leena Alotaibi   +3 more
doaj   +1 more source

Arachnodactyly

, 2004
openaire   +2 more sources

Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study

International Journal of Cancer, Volume 159, Issue 7, Page 1707-1714, 1 October 2026.
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren, Anna Skarin Nordenvall, Alexandra Wachtmeister, Fulya Taylan, Yunxia Lu, Christina Norrby, Anna Lindstrand, Giedre Grigelioniene, Giorgio Tettamanti   +8 more
wiley   +1 more source

Clinical Characteristics and Genetic Analysis of a Family With Birt-Hogg-Dubé Syndrome and Congenital Contractural Arachnodactyly

Frontiers in Genetics, 2022
Background: Birt-Hogg-Dubé (BHD) syndrome and congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome are clinically rare autosomal dominant genetic diseases.
Jiayong Qiu, Yao Lou, Yingwei Zhu, Min Wang, Huifang Peng, Yingying Hao, Hongwei Jiang, Yimin Mao   +7 more
doaj   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome

Annals of Saudi Medicine, 2015
BACKGROUND AND OBJECTIVES: Blindness-scoliosis-arachnodactyly syndrome has been described in a family with parental consanguinity. We present the strategy employed to determine the gene locus responsible for the syndrome.
Seda Orenay-Boyacioglu, Mustafa Tekin, Munis Dundar   +2 more
doaj   +1 more source

Neonatal inflammatory skin and bowel disease type 2: a very rare disease associated with EGFR mutation

Journal of Pediatric and Neonatal Individualized Medicine, 2020
Homozygous Epidermal Growth Factor Receptor (EGFR) mutation is associated with neonatal inflammatory skin and bowel disease type 2. We present the case of a preterm female infant with severe growth restriction and a severe and complex clinical course ...
Mariana Lemos, Joana S. Gonçalves, Cátia R. Correia, Ana Teresa Maria   +3 more
doaj   +1 more source

Geleophysic Dysplasia Associated With FBN1 Mutation: Clinical Course, Valvular Heart Disease, and Response to Recombinant Human Growth Hormone Therapy

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Geleophysic dysplasia (GD) is a rare genetic condition caused by pathogenic variants in either the ADAMTSL2 or FBN1 gene. We present a patient that combined clinical features consistent with GD, including short stature, delayed bone age, progressive congenital heart disease, and a happy, round face.
Ray Thomas Katbe, Laure Boutsen, Philippe A. Lysy   +2 more
wiley   +1 more source

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. [PDF]

, 2008
Contains fulltext : 81654.pdf (Publisher’s version ) (Closed access)Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears ...
Magnus Landgren, De Paepe, Anne M., Hester Y. Kroes, Michael Pope, Kingston, Helen, De Paepe, Anne, Anna Ficcadenti, Orazio Gabrielli, De Backer, Julie, Francisco Galán, Kroes, Hester Y, Callewaert, Bert L., Landgren, M., Callewaert, Bert, Loeys, Bart, LOEYS BL, Marielle E. Swinkels, Bart L. Loeys, Helen Kingston, Gabreilli, Orazio, Nathalie Van der Aa, Loeys, B.L., Salcedo, I., Coucke, Paul J., FICCADENTI A, Paepe, A.M. De, Foulds, N., Yaron, Y., Pope, M., Ficcadenti, Anna, Sascha Vermeer, Swinkels, M.E., Backer, J. de, Paul J. Coucke, Vermeer, S., Pope, Michael, Van der Aa, Nathalie, Loeys, Bart L., Landgren, Magnus, Swinkels, Marielle E., Carina Wallgren-Pettersson, Iratxe Salcedo, Kroes, H.Y., Boute, O., CALLEWAERT BL, Odile Boute, Aa, N. van der, Nicola Foulds, Swinkels, Marielle E, Bert L. Callewaert, Foulds, Nicola, Gabrielli, Orazio, Kingston, H., Callewaert, B.L., Wallgren-Pettersson, Carina, Ficcadenti, A., Galan, F., Gabrielli, O., Yuval Yaron, Anne M. De Paepe, Kroes, Hester Y., Coucke, Paul, Coucke, P.J., Boute, Odile, Salcedo, Iratxe, Julie De Backer, Galán, Francisco, Vermeer, Sascha, Yaron, Yuval, Wallgren-Pettersson, C.   +69 more
core   +1 more source

A Case with Mega Cisterna Magna Renal and Ear Anomalies: Is This a New Syndrome?

Case Reports in Medicine, 2013
Background. Extrarenal pathologies may be associated with renal position and fusion anomalies. According to the literature, our patient is the first horseshoe kidney case that had mega cisterna magna, arachnodactyly, and mild mental retardation.
Çapan Konca, Bahar Caliskan, Mehmet Ali Tas   +2 more
doaj   +1 more source