Mutation and Phenotypic Spectrum of Patients With RASopathies

Lallar, Meenakshi; Bijarnia‐Mahay, Sunita; Verma, Ishwar C.; Mandal, Kausik; Puri, Ratna Dua

doi:10.1007/s13312-021-2092-y

Cited by 3 publications

(1 citation statement)

References 17 publications

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“…One of the cardinal features of Noonan syndrome is proportional growth retardation, occurring in most patients (10,11), and represents the main cause of consultation to the clinician. These patients tend to have a birth length which is normal or slightly subnormal for gestational age.…”

Section: Growth Delay In Noonan Syndromementioning

confidence: 99%

Etiology and Treatment of Growth Delay in Noonan Syndrome

2021

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Noonan syndrome is characterized by multiple phenotypic features, including growth retardation, which represents the main cause of consultation to the clinician. Longitudinal growth during childhood and adolescence depends on several factors, among them an intact somatotrophic axis, which is characterized by an adequate growth hormone (GH) secretion by the pituitary, subsequent binding to its receptor, proper function of the post-receptor signaling pathway for this hormone (JAK-STAT5b and RAS/MAPK), and ultimately by the production of its main effector, insulin like growth factor 1 (IGF-1). Several studies regarding the function of the somatotrophic axis in patients with Noonan syndrome and data from murine models, suggest that partial GH insensitivity at a post-receptor level, as well as possible derangements in the RAS/MAPK pathway, are the most likely causes for the growth failure in these patients. Treatment with recombinant human growth hormone (rhGH) has been used extensively to promote linear growth in these patients. Numerous treatment protocols have been employed so far, but the published studies are quite heterogeneous regarding patient selection, length of treatment, and dose of rhGH utilized, so the true benefit of GH therapy is somewhat difficult to establish. This review will discuss the possible etiologies for the growth delay, as well as the outcomes following rhGH treatment in patients with Noonan syndrome.

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Section: Growth Delay In Noonan Syndromementioning

confidence: 99%

Etiology and Treatment of Growth Delay in Noonan Syndrome

2021

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Noonan syndrome‐like disorder: Case report and review of the literature

Mar,

Lam

2024

Pediatric Dermatology

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Of patients with a Noonan syndrome phenotype, only about 1% are found to be related to pathological variants in CBL, also known as Noonan syndrome‐like disorder (NSLD). We present a case of a 4‐year‐old boy diagnosed with NSLD, presenting with multiple melanocytic nevi and superficial neurofibromas. A literature review identified common cutaneous findings of NSLD, for example, café‐au‐lait macules (22%), juvenile xanthogranuloma (16%), and thin hair (10%). As there are no documented cases of neurofibromas associated with NSLD, and only a single report of multiple melanocytic nevi, inclusion of these features in the phenotype may be warranted and mitigate the necessity for future biopsies in other children.

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