Decreased bone mineral density in Costello syndrome

Leoni, Chiara; Stevenson, David A.; Martini, Lucilla; Sanctis, Roberto De; Mascolo, Giovanna; Pantaleoni, Francesca; Santis, Sara De; Torraca, Ilaria La; Persichilli, Silvia; Caradonna, Paolo; Tartaglia, Marco; Zampino, Giuseppe

doi:10.1016/j.ymgme.2013.08.007

Cited by 25 publications

(50 citation statements)

References 32 publications

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“…A recent study reported bone density in a group of individuals with CS, including four individuals over age 18. While bone density was low in three of the four individuals (lumbar spine and whole body z scores < −2), none of the individuals in the study had a fracture (Leoni et al, ). Orthopedic surgeries performed in older individuals include calcaneal tendon lengthening and spinal fusion.…”

Section: Issues In Adulthoodmentioning

confidence: 89%

“…Musculoskeletal findings are common and include scoliosis, pectus anomalies, osteopenia/osteoporosis, hip dysplasia/subluxation, vertical talus, tight Achilles tendons, large and small joint contractures, ulnar deviation of the wrists, hypotonia, joint laxity, and muscle weakness (Detweiler, Thacker, Hopkins, Conway, & Gripp, ; Reinker, Stevenson, & Tsung, ; Stevenson & Yang, ; Yassir, Grottkau, & Goldberg, ). Decreased bone mineral density has been reported in multiple RASopathies and is common in CS (Detweiler et al, ; Leoni et al, ; Stevenson et al, ; White et al, ). Osteopenia may be present and individuals may be symptomatic (White et al, ).…”

Section: Musculoskeletal Findingsmentioning

confidence: 99%

“…However, the resultant impact of fractures due to osteoporosis in CS has not been well elucidated. Vitamin D deficiency has been documented in European groups (Leoni et al, ).…”

Section: Musculoskeletal Findingsmentioning

confidence: 99%

“…To date, the only malignancy reported in adults with CS has been transitional cell carcinoma of the bladder (Beukers, Hercegovac, & Zwarthoff, ; White et al, ). Low bone density may be an issue for adults with CS (Leoni et al, ; White et al, ). While individuals may have symptomatic low bone density, other comorbidities for low bone density may be present and, therefore, the causal relationship with CS is unclear.…”

Section: Issues In Adulthoodmentioning

confidence: 99%

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Costello syndrome: Clinical phenotype, genotype, and management guidelines

Gripp

Morse

Axelrad

et al. 2019

American J of Med Genetics Pt A

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111

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Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues;however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are

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Section: Issues In Adulthoodmentioning

confidence: 89%

Section: Musculoskeletal Findingsmentioning

confidence: 99%

“…However, the resultant impact of fractures due to osteoporosis in CS has not been well elucidated. Vitamin D deficiency has been documented in European groups (Leoni et al, ).…”

Section: Musculoskeletal Findingsmentioning

confidence: 99%

Section: Issues In Adulthoodmentioning

confidence: 99%

See 2 more Smart Citations

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Gripp

Morse

Axelrad

et al. 2019

American J of Med Genetics Pt A

Self Cite

111

View full text Add to dashboard Cite

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“…White et al () reported abnormal DEXA scan results in the 8/17 patients who had a scan, two of whom had fragility fractures. Another study identified low bone density in three of four adults with CS (age range 18.5–28.9 years, 20‐year‐old male with normal BMD; Leoni et al, ). In our cohort, almost all individuals had a DEXA scan and half had abnormal bone density.…”

Section: Discussionmentioning

confidence: 98%

Medically actionable comorbidities in adults with Costello syndrome

Shikany

Baker

Stabley

et al. 2019

American J of Med Genetics Pt A

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Costello syndrome (CS) is an autosomal-dominant condition caused by activating missense mutations in HRAS. There is little literature describing health concerns specific to adults with CS. Parents of individuals with CS need to know what to anticipate as their children age. We surveyed a group of 20 adults and older adolescents with CS regarding their medical concerns and lifestyle characteristics. We identified several previously undescribed actionable medical concerns in adults with CS. First, the high prevalence of anxiety in this cohort indicates that screening for anxiety is warranted since this is a treatable condition that can have a significant impact on quality of life.Second, adults with CS should be monitored for progressive contractures or other problems that could decrease mobility. This is especially important in a population that seems to have increased risk for osteopenia. Finally, the lack of cancer diagnoses in adulthood is of interest, although the cohort is too small to draw definitive conclusions about cancer risk in adults with CS. Ongoing follow-up of the current cohort of adults with CS is necessary to delineate progressive medical and physical problems, which is essential for providing targeted management recommendations and anticipatory guidance to families. K E Y W O R D S adult, Costello syndrome, HRAS

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