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About 193 results

ALLMedicine™ Child Syndrome Center

Research & Reviews  38 results

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

May 13th, 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 ...

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,|

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...

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and locali...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801147
Molecular Genetics & Genomic Medicine; Tan EC, Chia SY et. al.

Dec 28th, 2021 - CHILD syndrome is an X-linked dominant disorder associated with pathogenic mutations in the NSDHL gene. The condition is predominantly found in females as it is lethal in males. Most cases present at birth with extensive unilateral ichthyosiform e...

Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment.
https://doi.org/10.1111/pde.14865
Pediatric Dermatology; Kallis P, Bisbee E et. al.

Nov 18th, 2021 - Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder of cholesterol synthesis characterized by unilateral ichthyosiform dermatitis with ipsilateral limb hypoplasia. Recentl...

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Drugs  30 results see all →

Clinicaltrials.gov  1 results

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

May 13th, 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 ...

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News  8 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...

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.

The Art and Science of JAMA, Then and Now
https://www.medscape.com/viewarticle/912737

May 15th, 2019 - This transcript has been edited for clarity. Hello and welcome. I'm Dr George Lundberg and this is At Large at Medscape.* Many of you may know that I had the great privilege of being the editor-in-chief of JAMA (the Journal of the American Medical...

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