A5014923223- dental development and anomalies
- Oral and Maxillofacial Pathology
- Genetic and rare skin diseases.
- Hedgehog Signaling Pathway Studies
- Cancer and Skin Lesions
- Skin and Cellular Biology Research
- Cancer-related Molecular Pathways
- Cancer-related gene regulation
- Asthma and respiratory diseases
- RNA regulation and disease
- Adolescent and Pediatric Healthcare
- Immunodeficiency and Autoimmune Disorders
- Infant Development and Preterm Care
- Neuroscience of respiration and sleep
- Epigenetics and DNA Methylation
- Cutaneous Melanoma Detection and Management
- Infant Health and Development
- Pediatric health and respiratory diseases
- Microbial infections and disease research
- Tracheal and airway disorders
- Neuroendocrine regulation and behavior
- Salivary Gland Tumors Diagnosis and Treatment
- Respiratory viral infections research
- Cleft Lip and Palate Research
- Neonatal and fetal brain pathology
University of Missouri
2012-2024
University of Missouri Health System
2012-2022
Illinois Arts Council Agency
2019
Missouri College
2016
Indiana University School of Medicine
2016
Saint Louis University
2005-2009
Cardinal Glennon Children’s Medical Center
1996
To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated list of ectodermal dysplasias based on latest classification approach that was adopted 2017 by an international panel experts. For this purpose, searched databases PubMed OMIM for term "ectodermal dysplasia", referring mainly to changes last 5 years. We also tried obtain information about those which scientific report appeared more than 15 years ago contacting authors most recent...
Clinical observations suggested that growth abnormalities may be present in children with ectodermal dysplasia (ED) syndromes. This study characterizes the longitudinal pattern of a cohort ED We hypothesized (1) linear and ponderal are from infancy through adolescence, (2) differ among clinical variants these disorders.We studied 138 who had were registered National Foundation for Ectodermal Dysplasias, 74% whom features consistent hypohidrotic EDs (HEDs). Height (or length) weight...
OBJECTIVES Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by deficient ectodermal and mesodermal development. Studies examining resultant otolaryngologic issues few. The objectives this study were to delineate the head neck manifestations quality life in EDs. STUDY DESIGN AND SETTING For 75 individuals, comprehensive histories taken examinations performed, subjects rated their symptom severity. A validated instrument (SF‐8) was administered. RESULTS majority had...
Focal dermal hypoplasia (FDH) is a condition caused by heterozygous mutation of the PORCN gene on chromosome Xp22.3. It impacts primitive ectoderm and mesoderm, affecting skin, teeth, nails, hair, musculoskeletal development, vision hearing. To date, there has been no systematic research examining psychoeducational impact disorder. The current study examined emotional, behavioral, adaptive, intellectual ability in 17 subjects with ages ranging from 3 to 55 FDH attending 2013 Annual Family...
Ectodermal dysplasias (EDs) are a heterogeneous group of genetic conditions affecting the development and/or homeostasis two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. There currently 49 recognized EDs with molecularly confirmed etiology. The very rare disorders, individually in aggregate. Very little is published regarding prevalence these disorders. As result genomics revolution, diseases have emerged as global health priority. various disabilities...
The Gardner-Diamond syndrome is a disorder characterized by recurrent spontaneous painful bruising in patients with underlying psychosis and neurosis. Despite the presence of other symptoms suggestive an primary hemostasis large percentage reported patients, results testing for von Willebrand disease or platelet function disorders are lacking. authors describe case adolescent girl who had abnormal responses during aggregation studies. A review literature revealed only three additional have...
Abstract Ankyloblepharon‐ectodermal defect‐cleft lip and/or palate (AEC) is a rare genetic disorder due to mutations in the TP63 gene. In present study, we characterized pattern of growth and body composition nutritional gastrointestinal aspects children adults (n = 18) affected with this using clinical anthropometry survey questionnaire. The mean birth weight height‐for‐age z ‐scores AEC patients were significantly lower than those reference population. weight‐for‐age ‐score cohort...
Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on X‐chromosome. In present study, we characterized pattern of growth, body composition, and nutritional gastrointestinal aspects children adults (n = 19) affected with this using clinical anthropometry survey questionnaire. The mean birth length ( P < 0.06) weight 0.001) z‐scores participants were lower than reference population. head circumference 0.001), height (length) 0.01), BMI...
Objective . Hypohidrotic ectodermal dysplasia (HED) is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition. Estimates of up to 50% affected children having intellectual disability are controversial. Method In a cross-sectional study, 45 youth with HED (77% males, mean age 9.75 years) 59 matched unaffected controls (70% 9.79 were administered the Kaufman Brief Intelligence Test Educational Achievement, their parents completed standardized...
Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on X chromosome. Short stature was previously noted to be common finding FDH, however etiology of this unclear. The present study sought elucidate specific causes for short assessing growth charts, determining bone ages and auxologic measurements, examining laboratory data failure, dietary intake, performing hormone stimulation test. Sixteen patients with FDH between 3 18 years age...
Retrospective maternal report of fetal activity level was compared with developmental diagnosis in 608 consecutively referred children. Maternal history also obtained from 140 unmatched well children a general pediatric clinic. Fetal hyperactivity positively associated child hyperactivity, and hypoactivity mental retardation the histories control group weakened strength association between but did not affect
Ectodermal dysplasia syndromes are frequently associated with manifestations of disease in the respiratory tract. Commonly, patients present signs and symptoms sinusitis, otitis media effusion, bronchitis or pneumonia. The etiologic bases for these disorders multi-factorial, including abnormal mucous production, anatomical variations, atopy immune function abnormalities. This presentation reviews current literature on clinical potential underlying causes noted increase morbidity due to...