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Isolated hypoglossia: Oromandibular Limb Hypogenesis Syndrome Type 1 A - A Rare Case Report.
J Clin Exp Dent
December 2024
Associate Professor, Department of Pediatric & Preventive Dentistry, K.S.D. Jain Dental College & Hospital, Kolkata, India.
Hypoglossia is a rare developmental anomaly of tongue. It is usually associated with various syndromes and other anomalies. Most common association of hypoglossia is with limb deformity and these disorders are collectively grouped as Oro Mandibular Limb Hypogenesis (OLHS) Syndrome.
View Article and Find Full Text PDFDandy-Walker Malformation in a Girl with Related Intellectual Disability.
Mol Syndromol
December 2023
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Introduction: We report on a 4-year-old female patient who presented with severe intellectual disability, autistic features, hyperlaxity of joints, and progressive scoliosis. Whole-exome sequencing identified a de novo missense variant (c.976C>T; p.
View Article and Find Full Text PDFRhombencephalosynapsis is an exceptionally uncommon cerebellar anomaly characterized by the absence or underdevelopment of vermal axons, the presence of dentate nuclei, and the fusion of cerebral hemispheres. Depending on the presence or absence of additional supratentorial anomalies, the prognosis and clinical appearance can vary widely. Here, we present the case of a consanguineous-parent newborn boy, aged four days, who was diagnosed with the use of an MRI.
View Article and Find Full Text PDFBilateral Internal Carotid Artery Hypoplasia with Craniofacial Anomalies: A Case of Suspected Treacher Collins Syndrome.
NMC Case Rep J
March 2023
Department of Neurosurgery, Graduate School of Medical, and Dental Sciences, Kagoshima University, Kagoshima, Kagoshima, Japan.
Internal carotid artery aplasia or hypoplasia above the cervical bifurcation is rare, occurring in less than 0.01% of the general population. Unilateral neurocristopathy complicated by unilateral internal carotid artery agenesis or hypogenesis has been reported, but bilateral internal carotid artery hypoplasia is rare and scarcely reported.
View Article and Find Full Text PDFA homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.
J Hum Genet
November 2022
Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Developmental brain malformations are rare but are increasingly reported features of BICD2-related disorders. Here, we report a 2-year old boy with microcephaly, profound delay and partial seizures. His brain MRI showed lissencephaly, hypogenesis of corpus callosum, dysplastic hipocampus and cerebellar hypoplasia.
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