Results 71 to 80 of about 186,840 (354)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy +15 more
wiley +1 more source
Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo +5 more
wiley +1 more source
Maxillofacial Plastic and Reconstructive Surgery, 2017 Background Nasalance is used to evaluate the velopharyngeal incompetence in clinical diagnoses using a nasometer. The aim of this study is to find the nasalance differences between Vietnamese cleft palate children and Korean cleft palate children by ...
Yu-Jeong Shin, Yongsoo Kim, Hyun-Gi Kim
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm +2 more
wiley +1 more source
Pediatric Otolaryngology, 2012 Foreword: Shaw, B. Preface: Cobourne, M.T. Epidemiology of Oral Clefts 2011: An International Perspective: Mossey, P.A. Modell, B. Genetic and Environmental Factors in Human Cleft Lip and Palate: Vieira, A.R.
M. Cobourne
semanticscholar +1 more source
Prevalence of dental anomalies of number in different subphenotypes of isolated cleft palate
Dental Press Journal of Orthodontics, 2014 OBJECTIVE: This study aimed at carrying out a radiographic analysis on the prevalence of dental anomalies of number (agenesis and supernumerary teeth) in permanent dentition, in different subphenotypes of isolated cleft palate pre-adolescent patients.
João Paulo Schwartz +7 more
doaj +1 more source
Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome
American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson +2 more
wiley +1 more source