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Upper Limb Muscles
Published in Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo, Handbook of Muscle Variations and Anomalies in Humans, 2022
Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo
Camptodactyly, a congenital flexion deformity typically of the fifth digit, that can be present alone or as part of a suite of malformations (including trisomies), may be caused by variations in lumbrical size, origin, and/or insertions (Eladoumikdachi et al. 2002b; Gonzalez and Netscher 2016; Favril et al. 2019).
Sly disease/β-glucuronidase deficiency/mucopolysaccharidosis VII
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Joint contractures have been observed and also hydrocephalus [16], concomitants of a classic mucopolysaccharidosis. Some have had dislocated hips [18]. Camptodactyly has been noted at birth along with absence of distal phalangeal creases, indicating prenatal onset. All have had hepatosplenomegaly. Developmental delay has been mild to moderate.
Weaver Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Management of Weaver syndrome requires multidisciplinary approaches (including pediatric, orthopedic, neurological, and cardiological care). Learning/behavior/speech assessment and support are indicated for affected patients showing developmental delay and/or learning disability. Surgical intervention may be required for those with toe camptodactyly. Physiotherapy may benefit those experiencing joint pain secondary to ligamentous laxity or joint contractures, or those with abnormal muscle tone. Treatment is routinely prescribed for those with scoliosis. Other measures may be undertaken when appropriate [5].
Genetic variants of FGFR family associated with height, hypertension, and osteoporosis
Published in Annals of Human Biology, 2023
Hye-Won Cho, Hyun-Seok Jin, Yong-Bin Eom
Indeed, one study demonstrated that growth plate activity is deregulated in mice lacking Fgfr3, leading to overgrowth of the appendicular skeleton (Colvin et al. 1996; Deng et al. 1996; Eswarakumar and Schlessinger 2007). Researchers expected that functional mutations might occur in human FGFR3 since mice lacking FGFR3 are viable, and this expectation was validated by the discovery of a family with dominantly inherited camptodactyly, tall stature, and hearing loss (CATSHL) syndrome (Makrythanasis et al. 2014; Escobar et al. 2016). CATSHL syndrome results from a missense mutation in the human FGFR3 gene that can cause anomalies by inhibiting negative regulation of bone growth (Escobar et al. 2016). In the present study, we found that the minor allele of the genetic variant in FGFR3 increases both height and the risk of osteoporosis. Although FGFR3 mutations do not cause critical disability, they have an effect on the skeletal phenotype within the normal range. Notably, our finding that taller height is associated with minor alleles in three genetic variants of the FGFR3 gene is supported by the results of these other studies. Together, these findings highlight the potential value of the FGFR3 gene in the skeletal system.
Physical functioning and activities of daily living in adults with amyoplasia, the most common form of arthrogryposis. A cross-sectional study
Published in Disability and Rehabilitation, 2018
Unni Steen, Lena Lande Wekre, Nina Køpke Vøllestad
Examination of the hand function showed that 16 participants (73%) had camptodactyly. Nine (41%) had contractures in both the proximal interphalangeal joints and the distal interphalangeal joints of all the fingers, except the thumbs. The metacarpophalangeal joints had limited movements, which affected opening and closing of the power grip. Eight persons (36%) had cupped hands and minimally active movements in the finger joints. Half of those with cupped hands had hypermobile finger joints. All participants had a kind of adducted thumb-in-palm, and all of them had contracted carpometacarpal joints in an adducted position. Only three participants had complete thumb-in-palm contractions as shown in Figure 2. Eleven (50%) of the participants had adduction in the carpometacarpal joint in the thumb together with hyperextension in the metacarpophalangeal joint and/or interphalangeal joint, as shown in Figure 3. No functional problems or pain was described as a consequence of hyperextension.
A developing portrait of hereditary periodic fevers in childhood
Published in Expert Opinion on Orphan Drugs, 2018
NF-κB is a ubiquitous transcription factor associated with a host of inflammatory responses that may cause powerful effects on cellular differentiation and also regulate cell death: final result of NF-κB pathway activation is the massive release of different proinflammatory cytokines. As an example, we have Blau syndrome (OMIM 186580), a familial form of granulomatous disease, and early-onset sarcoidosis (OMIM 609464), which is its sporadic variant, caused by mutations in the NOD2/CARD15 gene encoding the multidomain cytosolic NOD2 protein, a key-regulator of innate immunity acting as bacterial detector [58]. Blau syndrome-related mutations are located in the NACHT-domain and activate NF-κB pathway in the absence of bacterial wall triggers [59]. This rare disease with dominant autosomal inheritance is characterized by recurrent polyarthritis leading to camptodactyly, severe uveitis, and brown-colored scaly rash: histology can reveal noncaseating granuloma, and joints might appear severely swollen or bulging over time; airways are normally not involved in Blau syndrome, differently from early-onset sarcoidosis [60]. ‘Pediatric granulomatous arthritis’ is the term now used to portray Blau syndrome and early-onset sarcoidosis: their final diagnosis is based both on clinical features and genetic testing. The response to nonsteroidal-anti-inflammatory drugs is usually disappointing, and treatment must rely on corticosteroids, immunosuppressant drugs, TNF inhibitors, or IL-1 antagonists [61].