1 citations
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October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
16 citations
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December 2006 in “Chinese Medical Journal” Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
9 citations
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August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
19 citations
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March 2021 in “Experimental and Therapeutic Medicine” Isotretinoin can cause serious birth defects and needs careful use, especially in pregnant women.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
1 citations
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November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
1 citations
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January 2025 in “JAAD reviews.” Hypertrichosis involves excessive hair growth and needs careful diagnosis and treatment, considering its psychological effects.
1 citations
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
January 2025 in “Journal of College of Physicians And Surgeons Pakistan” Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
12 citations
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June 2016 in “Reviews in Endocrine and Metabolic Disorders” Some skin diseases and their treatments can negatively affect male fertility.
5 citations
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July 1988 in “Facial Plastic Surgery” Tissue expansion is a useful method for reconstructive surgery with good results and room for further enhancement.
50 citations
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November 2010 in “Otolaryngologic Clinics of North America” Recognizing oral symptoms can help diagnose and treat blood and nutritional diseases early.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
7 citations
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September 2013 in “Current Dermatology Reports” Some skin medications are safe for pregnant women, but others pose risks or should not be used.
3 citations
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January 2018 in “BioMed Research International” Achieving perfect facial plastic surgery requires personalized plans, proper patient selection, advanced techniques, and ongoing surgeon education.
2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
2 citations
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December 2014 Low biotin intake during pregnancy can affect biotin transport in mothers and fetuses.
1 citations
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July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
724 citations
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April 2004 in “Lancet Oncology” Chemotherapy in the first trimester of pregnancy is risky, but in the second and third trimesters, it's generally safe with careful drug selection and timing.
118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
36 citations
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January 2012 in “International Journal of Trichology” Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.
30 citations
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April 2007 in “Dermatologic Clinics” The document concludes that new treatments are needed to better manage acne and reduce side effects related to current therapies.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
8 citations
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December 1981 in “Journal of The American Academy of Dermatology” The document concludes that parathyroid diseases have a range of clinical features and outcomes, with some conditions being treatable and others having a high risk of mortality.
5 citations
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May 2023 in “European Journal of Human Genetics” NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
2 citations
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January 1998 in “Dermatology” Stopping forehead irritation and using hydrocortisone helped a man's skin, Martinique has lower melanoma rates, a man had an allergy to a specific antifungal, another had unexplained cysts, certain drugs can cause skin reactions without always being interrelated, a link between Fanconi anemia and a skin condition was suggested, high levels of a certain protein may play a role in a type of psoriasis, and there's a need to study the connection between scalp pain and hair loss.
November 2013 in “John Wiley & Sons, Ltd eBooks” The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.