Results 31 to 40 of about 2,852 (190)

Research progress in Haim-Munk syndrome

Pifu-xingbing zhenliaoxue zazhi, 2023
Haim-Munk syndrome is an extremely rare autosomal recessive genetic disease, characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, arachnodactyly, acro-osteolysis, pes planus foot and nail atrophic deformation.
Dandan DONG, Yonghui XU, Yufeng LIN, Jialing CHEN, Qian WANG, Liangmei HUANG, Jianqiang SHI   +6 more
doaj   +1 more source

Genu valgum and arachnodactyly: a rare presentation in Wildervanck syndrome

Ukrainian Journal of Ophthalmology
Background: Cervico-Oculo-acoustic syndrome, also known as Wildervanck syndrome, is a rare inherited disorder that causes congenital hearing loss, Klippel-Feil abnormalities, and Duane retraction syndrome.
Dipti Shikha Kashyap, Mohit Kumar
doaj   +1 more source

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

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1021-1035, May 2026.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Congenital contractural arachnodactyly and femoral fracture in a newborn infant: A causal relationship or a coincidence?

, 2004
Congenital contractural arachnodactyly (CCA, Beals syndrome) is an autosomal-dominant connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscollosis, abnormal pinnae, and muscular hypoplasia.
Korkmaz, A, Kupeli, S, Yurdakok, MURAT, Tuncbilek, E, Bulun, A   +4 more
core   +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

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

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

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