February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
77 citations
,
September 1983 in “Acta Paediatrica” Dexamethasone effectively normalizes elevated steroid levels in girls with premature adrenarche.
2 citations
,
August 2023 in “Journal of Endocrinological Investigation” Excess maternal androgens can cause heart problems in offspring.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
23 citations
,
June 2016 in “Journal of Veterinary Internal Medicine” Cats can have hypersomatotropism without diabetes, suggesting current diagnosis methods may miss cases.
42 citations
,
February 2019 in “Circulation” Targeting ATM could help manage heart cell enlargement due to pressure overload.
22 citations
,
January 1999 in “Dermatology” The condition might be caused by genetic changes after birth.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
December 2024 in “NeoReviews” Early diagnosis and management of congenital heart block in mothers with autoimmune conditions are crucial for improving neonatal outcomes.
April 2025 in “Cermin Dunia Kedokteran” Proper management of GER in children is crucial for effective treatment and referrals.
Hyperthyroidism mostly affects young women and can cause heart issues, but these can improve with treatment.
7 citations
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February 2024 in “The Journal of Physiology” Reduced plakoglobin and steroid abuse increase the risk of heart rhythm issues.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
September 2024 in “Pediatrics in Review” A trichobezoar caused the girl's recurrent intussusception, and surgery plus psychiatric therapy resolved her symptoms.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
February 2024 in “European heart journal. Case reports” Early surgical intervention and a multidisciplinary approach are crucial for managing complex cardio-obstetric patients.
46 citations
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March 2005 in “Endocrinology” Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
4 citations
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February 2023 in “Research Reports in Clinical Cardiology” Certain genes and high cholesterol levels increase heart disease risk in Ethiopian patients with high blood pressure.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
29 citations
,
September 1986 in “Journal of the American Veterinary Medical Association” The cat had a pituitary tumor causing hormone imbalance and related health issues.
73 citations
,
January 1997 in “British Journal of Ophthalmology” The coronal approach is effective and safe for reducing eye bulging in Graves' eye disease.
2 citations
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July 2021 in “Bali Medical Journal” A preauricular crease is common in people with coronary artery disease.
October 2023 in “BMJ Case Reports” Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
7 citations
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November 2017 in “Cureus” Ear creases might indicate heart disease risk, needing more research.