Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case

Autor: Patricia Diaz Escagedo, Melissa Fiscaletti, Patricia Olivier, Chloé Hudon, Valancy Miranda, Marie-Claude Miron, Philippe M. Campeau, Nathalie Alos

Publikováno v: BMC Pediatrics, Vol 21, Iss 1, Pp 1-7 (2021)

Abstract Introduction Rickets is not an unusual diagnosis for pediatricians even currently in developed countries. Children typically present with leg bowing, enlargement of wrists, rachitic rosary (swelling of costochondral junctions) and/or waddlin

Externí odkaz: https://doaj.org/article/388d86b4b5884bb2ae8b4e5867042277

Redefining Congenital Hypothyroidism?

Autor: Van Vliet G; Endocrinology Service and Research Center, Ste-Justine Hospital, Montreal, Quebec, Canada.; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada., Diaz Escagedo P; Endocrinology Service and Research Center, Ste-Justine Hospital, Montreal, Quebec, Canada.; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2021 Mar 08; Vol. 106 (3), pp. e1463-e1465.

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Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation.

Autor: Matsumoto H; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Hori T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.; Clinical Genetics Center, Gifu University Hospital, Gifu, Japan., Mori M; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.; Clinical Genetics Center, Gifu University Hospital, Gifu, Japan., Sasai H; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.; Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.; Department of Early Diagnosis and Preventive Medicine for Rare Intractable Pediatric Diseases, Graduate School of Medicine, Gifu University, Gifu, Japan., Tokuyama T; Department of Orthopedic Surgery, Kibogaoka Medical and Support Center for Children, Gifu, Japan., Yamada T; Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan.; Japanese Skeletal Dysplasia Consortium, Tokyo, Japan., Ohnishi H; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.; Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.

Publikováno v: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2024 Jan-Dec; Vol. 66 (1), pp. e15766.

Dépistage néonatal de l'hypothyroïdie congénitale et de l'hyperplasie congénitale des surrénales: Bénéfices et coûts d'un programme de santé publique à succès. (French)

Autor: Vliet, Guy Van, Grosse, Scott D.

Publikováno v: Médecine Sciences; mai2021, Vol. 37 Issue 5, p528-534, 7p