1 citations
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July 2001 in “Pediatrics in review” The girl has a hormonal imbalance causing increased hair growth and other male characteristics.
1 citations
,
July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
17 citations
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May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
2 citations
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July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
23 citations
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December 2008 in “Pediatric neurology” The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
3 citations
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December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
1 citations
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January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
18 citations
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December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
April 2020 in “Journal of the Endocrine Society” Type 3 acromegaly patients have more health issues and higher death risk.
9 citations
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April 2021 in “Annals of Translational Medicine” Facial contouring is crucial for the satisfaction and well-being of Chinese transgender females.
66 citations
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August 1999 in “The Journal of Clinical Endocrinology & Metabolism” Women with acromegaly often have irregular periods due to hormone imbalances and growth hormone effects.
1 citations
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January 2016 in “Georg Thieme Verlag eBooks” The document concludes that ideal facial proportions are guided by specific measurements and symmetry to enhance beauty, but individual characteristics must be considered.
2 citations
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March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
74 citations
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July 2010 in “The Journal of Clinical Endocrinology & Metabolism” Treatment of acromegaly can improve women's reproductive health issues caused by hormonal imbalances or tumors.
October 1984 in “Kidney international” The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
4 citations
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October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
November 2025 in “SKIN The Journal of Cutaneous Medicine” Granuloma faciale can occur on the scalp, especially in people with advanced hair loss, and may improve with treatment.
6 citations
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January 1997 in “Pediatric dermatology” The case suggests a possible link between severe acne and certain bone deformities.
July 2001 in “Pediatrics in review” The girl's increased hair growth and other symptoms were due to a hormone-secreting ovarian tumor, which was successfully treated with surgery.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
February 2021 in “Journal of the Korean Ophthalmological Society” A 7-year-old girl had unusually long eyelashes with no known cause or related health issues.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
1 citations
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June 2021 in “Computer methods and programs in biomedicine” Children with cancer had slightly more unusual facial shapes than healthy kids, but not enough to easily tell them apart.
1 citations
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
83 citations
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September 1993 in “Endocrinology and Metabolism Clinics of North America” January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
2 citations
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May 2017 in “Archives of Plastic Surgery” The document concludes that understanding the evolution of the human face helps cosmetic surgeons meet aesthetic desires.