Results 61 to 70 of about 5,033 (231)

Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report [PDF]

, 2003
Background Chondrodystrophic myotonia or Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and skeletal dysplasia. It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and
Nicola C Ho, Stacey Sandusky, Victor Madike, Clair A Francomano, Marinos C Dalakas, O Schwartz, RM Pascuzzi, S Nicole, E Arikawa-Hirasawa, D Viljoen, SA Farrell, A Giedion, E Arikawa-Hirasawa, HB Peng, E Arikawa-Hirasawa, LA Squires, M Eikermann   +16 more
core   +2 more sources

Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type [PDF]

, 2017
Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test.
Beighton, Beighton, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Clarkson, De Paepe, De Wandele, Gharbiya, Grahame, Grahame, Greenacre, Hakim, Kirk, Lebart, Loeys, Mayer, Palmer, Remvig, Remvig, Ritelli, Rombaut, Rombaut, Tinkle, Voermans, Voermans, Voermans, Zarate   +34 more
core   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Congenital malformations [PDF]

, 2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core   +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

PECTUS CARINATUM DEVELOPMENT AFTER THE NUSS PROCEDURE: A CASE REPORT

Turkish Medical Student Journal
Development of pectus carinatum is a very rare complication of the Nuss procedure. This complication may lead to early bar removal, which hinders sternal protrusion but induces the recurrence of pectus excavatum.
Zafer Alparslan, Mustafa Yüksel
doaj   +1 more source

Prevalência de pectus carinatum e pectus excavatum em escolares de Manaus Prevalence of pectus carinatum and pectus excavatum in students in the city of Manaus, Brazil

Jornal Brasileiro de Pneumologia, 2009
OBJETIVO: Determinar a prevalência das deformidades congênitas da parede torácica anterior em escolares de 11 a 14 anos. MÉTODOS: Participaram do estudo escolares da rede estadual de ensino da cidade de Manaus (AM).
Fernando Luiz Westphal, Luiz Carlos de Lima, José Corrêia Lima Neto, Altair Rodrigues Chaves, Vítor Lazarini dos Santos Júnior, Brena Luize Cunha Ferreira   +5 more
doaj   +1 more source

Bilateral congenital chest wall defects associated with microtia: First case report

Journal of Pediatric Surgery Case Reports, 2022
Congenital chest wall defects are uncommon and present commonly at birth or later in infancy. The most common types are pectus excavatum, pectus carinatum, and sternal clefts. We present the first case report of multiple congenital anomalies that include
Ayman Alkhamisy, Atya Gb, Ghada Alyousef, Fatema Alzahraa Alseddiki, Mohamad Morjan   +4 more
doaj   +1 more source

Assessment of copy number variations in 120 patients with Poland syndrome [PDF]

, 2016
Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies.
Aldamaria Puliti, Anwar Baban, Carlotta Maria Vaccari, Elisa Tassano, Filippo Senes, Ilaria Musante, Margherita Lerone, Maria Francesca Bedeschi, Maria Grazia Calevo, Maria Teresa Divizia, Maria Victoria Romanini, Massimo Acquaviva, Maura Valle, Michele Torre, Nunzio Catena, Roberto Ravazzolo, Simone Bossi, Stefania Gimelli   +17 more
core   +2 more sources

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