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Select item 115731971.

Jammed joints and constricted heart: The science of tribology and missing lubricin. A case report on camptodactyly-arthropathy-coxa vara-pericarditis syndrome

Krishnan Ganapathy Subramaniam, Satish Mohanty, Dhruva Sharma, Komal Tamildasan, Narahari Srinath Reddy

Ann Pediatr Cardiol. 2024 May-Jun; 17(3): 221–223. Published online 2024 Oct 1. doi: 10.4103/apc.apc_18_24

PMCID:: PMC11573197

Article PDF–1.1M

Select item 115652772.

Case Report: New phenotype of late-onset Stüve–Wiedemann syndrome due to a C-terminal variant in the LIFR gene

Evgenia Melnik, Margarita Sharova, Vladimir Kenis, Anna Morgul, Viktoria Zabnenkova, Tatiana Markova

Front Pediatr. 2024; 12: 1442624. Published online 2024 Oct 31. doi: 10.3389/fped.2024.1442624

PMCID:: PMC11565277

Article PDF–25M

Select item 113743913.

Conservative Treatment of Camptodactyly with use of Orthoses: A Retrospective Cohort

Maria da Conceição Soares de Oliveira, Felipe Soares Figueiredo, Diego Pinheiro Aguiar

Rev Bras Ortop (Sao Paulo) 2024 Aug; 59(4): e564–e571. Published online 2024 Sep 4. doi: 10.1055/s-0044-1786199

PMCID:: PMC11374391

Article PDF–2.1M

Select item 113437984.

Were camptodactyly and boutonniere deformity considered pathological in late fifteenth century Italy? Evidence from the sculptures of Francesco di Simone Ferrucci (1437–1493)

W. R. Albury, G. M. Weisz

Rheumatol Int. 2024; 44(9): 1767–1771. Published online 2023 Sep 1. doi: 10.1007/s00296-023-05434-y

PMCID:: PMC11343798

Article PDF–847K

Select item 112031895.

Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease

Michaela Brichova, Aneta Klimova, Jarmila Heissigerova, Petra Svozilkova, Manuela Vaneckova, Pavla Dolezalova, Dana Nemcova, Marcela Michalickova, Jana Jedlickova, Lubica Dudakova, Petra Liskova

Genes (Basel) 2024 Jun; 15(6): 799. Published online 2024 Jun 18. doi: 10.3390/genes15060799

PMCID:: PMC11203189

Article PDF–4.6M

Select item 111935866.

Strategy for the Conservative Treatment of Type-III Camptodactyly in Children with Beals-Hecht Syndrome

Maria da Conceição Soares de Oliveira, Saulo Fontes Almeida, Anderson Vieira Monteiro, Maria Caroliny Soares de Oliveira, Felipe Soares Figueiredo, Diego Pinheiro Aguiar

Rev Bras Ortop (Sao Paulo) 2024 Jun; 59(3): e485–e488. Published online 2021 Dec 6. doi: 10.1055/s-0041-1739401

PMCID:: PMC11193586

Article PDF–509K

Select item 111109447.

In the Shadows of Rarity: A Case Report of Syndromic Cleft Lip and Palate!

Pallavi Daigavane, Mrudula Shinde, Priyanka Niranjane, Bhagyashri Chimote

Cureus. 2024 Apr; 16(4): e58752. Published online 2024 Apr 22. doi: 10.7759/cureus.58752

PMCID:: PMC11110944

Article PDF–543K

Select item 110891238.

A retrospective study on the correction of distal arthrogryposis with a progressive extension brace

Jiateng Zhou, Tong Zhang, Zhibo Wang, Dongdong Li, Xin Wu, Qinyuan Yu, Bin Wang

Front Pediatr. 2024; 12: 1385938. Published online 2024 Apr 29. doi: 10.3389/fped.2024.1385938

PMCID:: PMC11089123

Article PDF–15M

Select item 110440749.

A Novel Variant in the FBN1 Gene Causing Marfan Syndrome: A Case Report

Gabriel A Jiménez-Berríos, Sebastián J Vázquez-Folch, Natalio Izquierdo

Cureus. 2024 Mar; 16(3): e56948. Published online 2024 Mar 26. doi: 10.7759/cureus.56948

PMCID:: PMC11044074

Article PDF–1.0M

Select item 1100983410.

Predictors of low bone density and fracture risk in Loeys–Dietz syndrome

Anthony L. Guerrerio, Allyson Mateja, Marjohn Rasooly, Samara Levin, Alaina Magnani, Caeden Dempsey, Gretchen MacCarrick, Harry C. Dietz, Erica Brittain, Alison M. Boyce, Pamela A. Frischmeyer-Guerrerio

Genet Med. Author manuscript; available in PMC 2024 Apr 12.

Published in final edited form as: Genet Med. 2022 Feb; 24(2): 419–429. Published online 2021 Nov 30. doi: 10.1016/j.gim.2021.10.002

PMCID:: PMC11009834

Article PDF–734K

Select item 1100365311.

An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report

Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto e Vairo, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz

Genet Mol Biol. 2024; 47(1): e20220335. Published online 2024 Apr 8. doi: 10.1590/1678-4685-GMB-2022-0335

PMCID:: PMC11003653

Article PDF–1.0M

Select item 1093897812.

Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association

Pricila Bernardi, Carla Graziadio, Rafael Fabiano Machado Rosa, Juliana Nunes Pfeil, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

Sao Paulo Med J. 2010; 128(2): 99–101. Published online 2010 Mar 4. doi: 10.1590/S1516-31802010000200011

PMCID:: PMC10938978

Article PDF–395K

Select item 1079463413.

Case Report: Stüve–Wiedemann syndrome—a rare cause of persistent pulmonary hypertension of the newborn

Jessica Jin, Paula Rothämel, Johanna Büchel, Birgit Kammer, Theresa Brunet, Joseph Pattathu, Andreas W. Flemmer, Claudia Nussbaum, Sebastian Schroepf

Front Pediatr. 2023; 11: 1329404. Published online 2024 Jan 4. doi: 10.3389/fped.2023.1329404

PMCID:: PMC10794634

Article PDF–4.8M

Select item 1062018514.

Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly

Muhammad Bilal, Hammal Khan, Muhammad Javed Khan, Tobias B. Haack, Rebecca Buchert, Khurram Liaqat, Kifayat Ullah, Sohail Ahmed, Thashi Bharadwaj, Anushree Acharya, Susana Peralta, Najumuddin, Hamid Ali, Muhammad Sharif Hasni, Isabelle Schrauwen, Asmat Ullah, Wasim Ahmad, Suzanne M. Leal

Eur J Hum Genet. 2023 Nov; 31(11): 1270–1274. Published online 2023 Sep 8. doi: 10.1038/s41431-023-01450-5

PMCID:: PMC10620185

Article PDF–1.2M

Select item 1061855615.

Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality

Jichao Zhou, Yuchen Wang, Yinghong Zhang, Debo You, Yi Wang

Front Genet. 2023; 14: 1150613. Published online 2023 Oct 18. doi: 10.3389/fgene.2023.1150613

PMCID:: PMC10618556

Article PDF–2.0M

Select item 1054516916.

Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report

Su Hyun Yoon, Younghwa Kong

Medicine (Baltimore) 2021 Feb 12; 100(6): e24301. Published online 2021 Feb 12. doi: 10.1097/MD.0000000000024301

PMCID:: PMC10545169

Article PDF–639K

Select item 1038874217.

Congenital limb defects in a married female population of the Rahim Yar Khan District in Pakistan

Hafiza Fizzah Riaz, Sajid Malik

Asian Biomed (Res Rev News) 2021 Jun; 15(3): 137–144. Published online 2021 Jun 30. doi: 10.2478/abm-2021-0017

PMCID:: PMC10388742

Article PDF–756K

Select item 1033752018.

Lethal multiple pterygium syndrome in a newborn, a case report

Parvaneh Sadeghimoghadam, Saeedeh Shirdel, Sedigheh Hantoushzadeh, Zeinab Hashemi, Marjan Ghaemi

Clin Case Rep. 2023 Jul; 11(7): e7678. Published online 2023 Jul 12. doi: 10.1002/ccr3.7678

PMCID:: PMC10337520

Article PDF–461K

Select item 1028000419.

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report

Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Magdalena Badura-Stronka, Jerome Juengling, Kerstin Huhn, Saskia Biskup, Bartłomiej Bancerz, Jarosław Walkowiak

Front Genet. 2023; 14: 1108852. Published online 2023 Jun 6. doi: 10.3389/fgene.2023.1108852