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About 245 results

ALLMedicine™ Child Syndrome Center

Research & Reviews  52 results

Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
https://clinicaltrials.gov/ct2/show/NCT05047354

Jun 16th, 2022 - Study Description: The objective of this study is to characterize the natural history of Smith-Lemli-Opitz Syndrome (SLOS) and related disorders (such as lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata (CDPX2), CHILD ...

Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
https://clinicaltrials.gov/ct2/show/NCT00046202

Jun 16th, 2022 - Over the past 15 years, it has become clear that inborn errors of cholesterol synthesis give rise to human malformation/mental retardation syndromes. Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabol...

Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHIL...
https://doi.org/10.1097/MCD.0000000000000422
Clinical Dysmorphology; Martínez R, Peña C et. al.

Apr 9th, 2022 - Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.|2022|Martínez R,Peña C,Quiroga-Carrillo M,Ordóñez-Reyes C,Rincón J,|genetics,diagnosis,genetics,

Developmental Coordination Disorder
https://emedicine.medscape.com/article/915251-overview

Jan 4th, 2022 - Background Movement clumsiness has gained increasing recognition as an important condition of childhood; however, its diagnosis is uncertain. Approaches to assessment and treatment vary depending on theoretical assumptions about etiology and its d...

Developmental Coordination Disorder
http://emedicine.medscape.com/article/915251-overview

Jan 4th, 2022 - Background Movement clumsiness has gained increasing recognition as an important condition of childhood; however, its diagnosis is uncertain. Approaches to assessment and treatment vary depending on theoretical assumptions about etiology and its d...

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Drugs  30 results see all →

Clinicaltrials.gov  2 results

Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
https://clinicaltrials.gov/ct2/show/NCT05047354

Jun 16th, 2022 - Study Description: The objective of this study is to characterize the natural history of Smith-Lemli-Opitz Syndrome (SLOS) and related disorders (such as lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata (CDPX2), CHILD ...

Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
https://clinicaltrials.gov/ct2/show/NCT00046202

Jun 16th, 2022 - Over the past 15 years, it has become clear that inborn errors of cholesterol synthesis give rise to human malformation/mental retardation syndromes. Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabol...

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News  14 results

Despite New Ichthyosis Treatment Recommendations, 'Many Questions Still Exist'
https://www.medscape.com/viewarticle/949188

Apr 13th, 2021 - For as many disorders of cornification and types of ichthyosis that have been shown to benefit from retinoids, a seemingly equal number have no data or show no improvement. According to a consensus statement published in the February issue of Pedi...

Despite new ichthyosis treatment recommendations, ‘many questions still exist’
https://www.mdedge.com/dermatology/article/238473/pediatrics/despite-new-ichthyosis-treatment-recommendations-many
Doug Brunk

Apr 12th, 2021 - For as many disorders of cornification and types of ichthyosis that have been shown to benefit from retinoids, a seemingly equal number have no data or show no improvement. Dr.

UK COVID-19 Daily: Case Definition Published for Rare Child Syndrome
https://www.medscape.com/viewarticle/929842

May 2nd, 2020 - These are the UK coronavirus stories you need to know about today. Case Definition Published for Rare Child Syndrome UK paediatricians have published a working definition of an inflammatory syndrome affecting a very small number of children that m...

Child Abuse Pediatricians Face Media Scrutiny
https://www.medpagetoday.com/pediatrics/domesticviolence/83024

Oct 30th, 2019 - In the decade since "child abuse pediatrician" became a board-certified subspecialty, the field has seen its share of controversy. Justina Pelletier was taken from her parents and institutionalized in 2013 after a child abuse pediatrician at Bosto...

The answer is early follow-up
https://www.mdedge.com/pediatrics/article/202919/business-medicine/answer-early-follow?channel=38029
William G. Wilkoff, MD

Jun 14th, 2019 - If the answer is “early follow-up,” then what is the question? It could be any one of the scores of challenges facing a primary care physician. Rachel Pearson – writing in an article on the vulnerable child syndrome in The New Yorker – claims that.

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