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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1964 1
1977 2
1979 2
1981 2
1982 1
1983 2
1984 2
1985 4
1986 3
1987 1
1988 1
1989 1
1990 1
1991 2
1992 2
1993 6
1994 1
1995 2
1996 2
1997 3
1998 2
1999 6
2000 1
2001 4
2002 3
2003 3
2004 4
2005 5
2006 7
2007 1
2008 3
2009 7
2010 13
2011 8
2012 8
2013 12
2014 12
2015 8
2016 11
2017 10
2018 16
2019 4
2020 9
2021 13
2022 4
2023 3
2024 2

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200 results

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Page 1
Freeman-Burian syndrome.
Poling MI, Dufresne CR, Chamberlain RL. Poling MI, et al. Orphanet J Rare Dis. 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. Orphanet J Rare Dis. 2019. PMID: 30630514 Free PMC article. Review.
Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ulnar deviation of the hand and talipes equinovarus. ...
Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ulnar deviation of the hand and ta …
Sheldon-Hall syndrome.
Toydemir RM, Bamshad MJ. Toydemir RM, et al. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. Orphanet J Rare Dis. 2009. PMID: 19309503 Free PMC article. Review.
Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus. ...
Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, shor …
Familial camptodactyly.
Brites MM, Moreno A, Salgado M, Batista AP. Brites MM, et al. Eur J Dermatol. 1998 Jul-Aug;8(5):355-6. Eur J Dermatol. 1998. PMID: 9683871
Camptodactyly is a permanent flexion deformity at the interphalangeal joints, usually at the proximal, interphalangeal joints. ...It can also be sporadic or be transmitted as an autosomal dominant trait [1, 5, 7, 8]. We report a case of familial camptodactyly not as …
Camptodactyly is a permanent flexion deformity at the interphalangeal joints, usually at the proximal, interphalangeal joints. ...It …
CAMPTODACTYLY AND CLINODACTYLY - NEW UNDERSTANDING OF KNOWN DEFORMITIES.
Matošević M, Lamot L, Antičević D. Matošević M, et al. Acta Clin Croat. 2022 Feb;60(3):525-531. doi: 10.20471/acc.2021.60.03.24. Acta Clin Croat. 2022. PMID: 35282479 Free PMC article. Review.
Camptodactyly and clinodactyly are most commonly considered just cosmetic defects, but they can pose a major diagnostic and therapeutic challenge, mainly because of their apparently similar clinical presentation. ...
Camptodactyly and clinodactyly are most commonly considered just cosmetic defects, but they can pose a major diagnostic and therapeut …
Treating Congenital Proximal Interphalangeal Joint Contracture.
Yannascoli SM, Goldfarb CA. Yannascoli SM, et al. Hand Clin. 2018 May;34(2):237-249. doi: 10.1016/j.hcl.2017.12.013. Hand Clin. 2018. PMID: 29625643 Review.
The management of congenital proximal interphalangeal joint deformity, also known as camptodactyly, is challenging. There are numerous theories on the cause of this abnormal finger posture, leading to variations in classification, definition, and treatment approaches. This …
The management of congenital proximal interphalangeal joint deformity, also known as camptodactyly, is challenging. There are numerou …
"Lessons from Rare Forms of Osteoarthritis".
Shepherd RF, Kerns JG, Ranganath LR, Gallagher JA, Taylor AM. Shepherd RF, et al. Calcif Tissue Int. 2021 Sep;109(3):291-302. doi: 10.1007/s00223-021-00896-3. Epub 2021 Aug 21. Calcif Tissue Int. 2021. PMID: 34417863 Free PMC article. Review.
In some of these rarer forms, single defective genes are responsible. The extreme phenotypes seen in conditions such as Camptodactyly Arthropathy-Coxa Vara-pericarditis Syndrome, Chondrodysplasias and Alkaptonuria all present potential opportunities for greater understandi …
In some of these rarer forms, single defective genes are responsible. The extreme phenotypes seen in conditions such as Camptodactyly …
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L. Buers I, et al. Clin Genet. 2020 Jan;97(1):209-221. doi: 10.1111/cge.13639. Epub 2019 Sep 16. Clin Genet. 2020. PMID: 31497877 Review.
Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory difficulties often leading to sudden death in the neonatal period. ...
Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, fee …
Phenotypic heterogeneity of ZMPSTE24 deficiency.
Cassini TA, Robertson AK, Bican AG, Cogan JD, Hannig VL, Newman JH, Hamid R, Phillips JA 3rd; Undiagnosed Diseases Network. Cassini TA, et al. Am J Med Genet A. 2018 May;176(5):1175-1179. doi: 10.1002/ajmg.a.38493. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341437 Free PMC article.
A 4-year-old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman-Streiff syndrome. ...
A 4-year-old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, …
Congenital malformations of the hand and forearm in children: what radiologists should know.
Aucourt J, Budzik JF, Manouvrier-Hanu S, Mézel A, Cotten A, Boutry N. Aucourt J, et al. Semin Musculoskelet Radiol. 2012 Apr;16(2):146-58. doi: 10.1055/s-0032-1311766. Epub 2012 May 30. Semin Musculoskelet Radiol. 2012. PMID: 22648430 Review.
They can be divided into (1) failure of formation with transverse, intercalary, and longitudinal (preaxial, postaxial, and mesoaxial) deficiencies, (2) failure of differentiation with synostoses, carpal coalitions, syndactylies, and symphalangism, (3) duplication with ulnar dimel …
They can be divided into (1) failure of formation with transverse, intercalary, and longitudinal (preaxial, postaxial, and mesoaxial) defici …
Crisponi/CISS1 syndrome: A case series.
Alhashem AM, Majeed-Saidan MA, Ammari AN, Alrakaf MS, Nojoom M, Maddirevula S, Faqeih E, Alkuraya FS, Garne E, Kurdi AM. Alhashem AM, et al. Am J Med Genet A. 2016 May;170A(5):1236-41. doi: 10.1002/ajmg.a.37569. Epub 2016 Jan 24. Am J Med Genet A. 2016. PMID: 26804344
Crisponi/CISS1 syndrome (MIM#272430) is a rare autosomal recessive disease characterized by major feeding difficulties, camptodactyly, and anhidrosis in early childhood; and the subsequent development of paradoxical cold-induced sweating and scoliosis later in life. ...
Crisponi/CISS1 syndrome (MIM#272430) is a rare autosomal recessive disease characterized by major feeding difficulties, camptodactyly …
200 results