3 citations
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May 2004 in “Journal of neurosurgery” Endoscopy-assisted surgery for craniosynostosis showed excellent outcomes with minimal complications and most patients went home the day after surgery.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
September 2016 in “Archives of Pediatric Infectious Diseases” A young girl developed serious bone inflammation in her skull after a skin graft, which is a rare but severe condition.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
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.
4 citations
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August 2008 in “Plastic & Reconstructive Surgery” The flap effectively sealed leaks and served as a barrier, with minor complications, for anterior skull base surgery.
6 citations
,
January 2013 in “Case reports in endocrinology” The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
7 citations
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July 2022 in “Plastic & Reconstructive Surgery” Thorough cleaning of the skull is key for successful scalp injury reconstruction.
April 2024 in “Archives of Dermatological Research” The approach improves scalp surgery results by tailoring techniques to defect size and location.
January 2020 in “Acta dermato-venereologica” People with certain hair disorders may also have missing permanent teeth.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
13 citations
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July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
March 2023 in “Pediatrics & neonatology” A baby girl had two brain-related growths removed and is developing normally.
5 citations
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December 2016 in “Microscopy Research and Technique” EPI-NCSCs from hair follicles may help treat brain development issues in mice.
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.
37 citations
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June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
6 citations
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January 1997 in “Pediatric dermatology” The case suggests a possible link between severe acne and certain bone deformities.
January 2025 in “Surgical & Cosmetic Dermatology” Forehead reduction surgery can fix forehead defects and improve appearance.
January 2019 in “Global Dermatology” Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
September 2020 in “Oral surgery, oral medicine, oral pathology and oral radiology” The report shows that a rare benign tumor was successfully removed from inside the mouth to avoid scarring on the face.
April 2016 in “Plastic and reconstructive surgery. Global open” Surgery may help infants with sagittal craniosynostosis develop more typical language processing.
9 citations
,
August 2002 in “British journal of ophthalmology” The document reports a rare case of ECCL with a new association with optic disc colobomas.
27 citations
,
February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
9 citations
,
February 2013 in “Plastic and Reconstructive Surgery” The article explains how to rebuild parts of the head and face and how to transplant hair to cover scars, highlighting the need for careful planning and choosing the right method for each patient.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
The treatment improved facial structure and corrected bite issues in patients.