The Coffin-Lowry syndrome is an established syndrome of severe mental and growth retardation, characteristic dysmorphic features and skeletal anomalies. The authors report a one and half year old boy with classical features of this syndrome. Early recognition of this condition is important for genetic counseling and prevention of progressive skeletal deformities.
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The natural course of newborns with transient congenital hypothyroidism.
Endocr Connect
December 2024
The Ruth & Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel.
Objectives: The incidence of congenital hypothyroidism (CH) has increased worldwide over the last decades, mainly due to the lowering of screening thresholds, resulting in the increased identification of newborns with transient CH. Several studies have reported the prevalence and the predictive parameters of transient CH, but reports on the long-term outcome are rare. This study aimed to assess the long-term course of neonates with transient CH.
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Northeast Ohio Medical University College of Medicine, 4209 State Route 44, 44272, Rootstown, OH, USA.
Coffin-Lowry Syndrome (CLS) is a rare X-linked genetic disorder characterized by growth delays, facial dysmorphisms, and intellectual disabilities. Currently, there are limited published case reports regarding the anesthetic management of patients with CLS. Managing anesthesia for CLS patients can be complex due to difficult airway management.
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Molecular Virology Unit, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium. Electronic address:
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