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About 1,435 results

ALLMedicine™ Macrocephaly Center

Research & Reviews  558 results

An autopsy case of recurrent pneumothorax and peliosis-like intrapulmonary hematoma wit...
https://doi.org/10.1016/j.braindev.2021.11.004
Brain & Development; Yabe T, Itonaga T et. al.

Nov 30th, 2021 - The typical non-muscle complications of long-surviving X-linked myotubular myopathy (XLMTM) include scoliosis, head deformity, macrocephaly, gastroesophageal reflux disease and peliosis hepatis. Recently, pulmonary blebs and recurrent pneumothorax...

Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and s...
https://doi.org/10.1093/hmg/ddab320
Human Molecular Genetics; Mignogna ML, Ficarella R et. al.

Nov 12th, 2021 - Autism spectrum disorder (ASD) and intellectual disability (ID) often exist together in patients. The RAB39B gene has been reported to be mutated in ID patients with additional clinical features ranging from ASD, macrocephaly, seizures and/or earl...

16p11.2 Recurrent Deletion - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/del16p11_2/

Oct 28th, 2021 - The 16p11.2 recurrent deletion phenotype is characterized by motor speech disorder, language disorder, motor coordination difficulties, psychiatric conditions, and autistic features. While most, if not all, individuals with the 16p11.2 recurrent d...

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Clinicaltrials.gov  1 results

Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development
https://clinicaltrials.gov/ct2/show/NCT04993235

Aug 6th, 2021 - Background and Rationale Sotos Syndrome (SS) and Beckwith-Wiedemann Syndrome (BWS) are known as overgrowth syndromes as they involve alterations in dimensions of the whole body or of specific body parts. SS is characterized by advanced bone age, m...

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News  14 results

Genetic Counselor Addresses Common Questions About Testing in Oncology
https://www.onclive.com/view/genetic-counselor-addresses-common-questions-about-testing-in-oncology

Dec 20th, 2020 - Genetic testing is more important now than ever before, as biomarker-driven cancer treatments continue to receive approval across many tumor types. While these personalized treatments are improving outcomes, navigating the landscape of genetic tes...

ODCI Gene Linked to New Neurodevelopmental Disorder
https://www.staging.medscape.com/viewarticle/939996

Oct 29th, 2020 - A mutation of the ODC1 gene, which plays a key role in polyamine metabolism, has been implicated in a syndromic neurodevelopmental disorder first described in 2018 and linked to a number of dysmorphic features and brain abnormalities, but it may b...

ODCI Gene Linked to New Neurodevelopmental Disorder
https://www.medscape.com/viewarticle/939996

Oct 29th, 2020 - A mutation of the ODC1 gene, which plays a key role in polyamine metabolism, has been implicated in a syndromic neurodevelopmental disorder first described in 2018 and linked to a number of dysmorphic features and brain abnormalities, but it may b...

ODC1 gene linked to newly described neurodevelopmental disorder
https://www.mdedge.com/neurology/article/230818/neurodevelopmental-disorders/odc1-gene-linked-newly-described
Richard Mark Kirkner

Oct 28th, 2020 - A mutation of the ODC1 gene, which plays a key role in polyamine metabolism, has been implicated in a syndromic neurodevelopmental disorder first described in 2018 and linked to a number of dysmorphic features and brain abnormalities, but it may b.

Novel Agent Shows Promise as First Possible Therapy for Achondroplasia
https://www.medscape.com/viewarticle/914534

Jun 18th, 2019 - The results are preliminary, but a novel investigative agent has shown promise in a small trial in children for the treatment of achondroplasia, the most common form of human dwarfism. A phase 2 proof of concept study found that treatment with vos...

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Patient Education  1 results see all →