Results 41 to 50 of about 7,333 (167)
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Townes-Brocks syndrome with overlapping features of hemifacial microsomia
Journal of Orofacial Sciences, 2013 Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations.
Yadavalli Guruprasad +1 more
doaj +1 more source
Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis +9 more
wiley +1 more source
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera +15 more
wiley +1 more source
Determinants of Healthcare Costs in Individuals With Down Syndrome: A Systematic Review
Health Science Reports, Volume 9, Issue 6, June 2026.ABSTRACT Background Individuals with Down syndrome (DS) require specialized medical follow‐up and services more frequently than the general population, resulting in substantial healthcare costs for families and health systems. This systematic review aimed to synthesize evidence on the magnitude and determinants of direct healthcare and indirect costs ...
Shiva Tolouei Rakhshan +4 more
wiley +1 more source
Associated malformations in newborns with imperforate anus in Gorgan, Iran (2006-10)
مجله دانشگاه علوم پزشکی گرگان, 2014 Background and Objective: Imperforate anus is a common anorectal malformation, which is associated with other anomalies. This study was done to determine the associated malformations in newborns with imperforate anus in northern Iran.
Mirfazeli A +4 more
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