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60-90 / 1000+ resultsresearch The concept of latent social skills in autism and its predictive value for future development
research Common Dermatologic Disorders in Down Syndrome: Systematic Review
People with Down syndrome often have skin issues and need regular check-ups for early treatment.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review (Preprint)
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Do Dermatoses Trigger Neurodegenerative Diseases? A Retrospective Observational Study
Skin issues are common in people with neurodegenerative diseases.
research Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
research FATORES PRÉ-NATAIS, INTRÍNSECOS E EXTRÍNSECOS QUE PODEM CORROBORAR A GÊNESE DO TRANSTORNO DO ESPECTRO AUTISTA (TEA)
Pre-natal, internal, and external factors may contribute to the development of Autism Spectrum Disorder (ASD).
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research Frequency of neuro-psychiatric dysfunction in anti-SSA/SSB exposed children with and without neonatal lupus
Anti-Ro exposed children had more reported neuro-psychiatric issues, but differences from healthy controls were not significant.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Immunodeficiency Disorders
People with primary immunodeficiencies often have frequent, severe, or unusual infections and may need special tests and management strategies.
research Down Syndrome and Autoimmune Disease
People with Down syndrome have a higher risk of autoimmune diseases, so early detection and care are important.
research DIFERENÇAS NA APRESENTAÇÃO E DIAGNÓSTICO DE TRANSTORNO DO ESPECTRO AUTISTA EM MENINOS E MENINAS: PERCEPÇÃO DOS PROFISSIONAIS DA SAÚDE
Girls with Autism Spectrum Disorder may show different symptoms than boys, leading to missed or delayed diagnoses.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Effect of longtime selenium-deficient feeding on the neurobehavioral development of the fourth generation rats in lactation.
Selenium and iodine deficiencies cause delayed growth and abnormal neural behavior in rats.
research Genetic defects of brain immunity in childhood herpes simplex encephalitis
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Early postnatal allopregnanolone levels alteration and adult behavioral disruption in rats: Implication for drug abuse
Changing allopregnanolone levels in baby rats affects their adult behavior and alcohol use.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Inborn Errors of Metabolism
Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.