[DiGeorge syndrome with mild episodic hypocalcemia].
نویسندگان
چکیده
7. Nguyen NP, Borok TL, Welsh J, Vinh-Hung V. Safety and effectiveness of vascular endoprosthesis for malignant superior vena cava syndrome. Thorax. 2009;64:174—8. 8. Roels P, Vincken W, DeGreve J, Vanhaelst L. Superior vena cava syndrome caused by bening intrathoracic goiter. Acta Clin Bel. 1983;38:329—32. 9. Sancho JJ, Kraimps JL, Sánchez-Blanco JM, Larrad A, Rodríguez JM, Gil P, et al. Increased mortality and morbidity associated with thyroidectomy for intrathoracic goiters reaching the carina tracheae. Arch Surg. 2006;141: 82—5. Katty Manrique Franco ∗, Elena López-Mezquita Torres, Leonor Sánchez García, Carmen Aragón Valera y Olga Sanchez-Vilar Burdiel
منابع مشابه
DiGeorge syndrome with mild episodic hypocalcemia
7. Nguyen NP, Borok tL, Welsh J, Vinh-Hung V. Safety and effectiveness of vascular endoprosthesis for malignant superior vena cava syndrome. thorax. 2009;64:174-8. 8. roels P, Vincken W, DeGreve J, Vanhaelst L. Superior vena cava syndrome caused by bening intrathoracic goiter. Acta clin Bel. 1983;38:329-32. 9. Sancho JJ, Kraimps JL, Sánchez-Blanco JM, Larrad A, rodríguez JM, Gil P, et al. incre...
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22q11.2 microdeletion which involves DiGeorge syndrome, velo-cardiofacial syndrome and conotruncal anomaly face syndrome occurs as a result of a deletion in the short segment of the long arm of the 22th chromosome. Patients with this syndrome have a wide clinical spectrum including learning difficulty, dysmorphic face, cardiac anomalies, hypocalcemia, hypoparathyroidism, cleft palate, thymus an...
متن کاملDiGeorge Syndrome (22q11.2 Deletion Syndrome) — Symptoms and Treatment
DiGeorge Syndrome results from microdeletion in a small segment of chromosome 22. When inherited from parents, it follows an autosomal dominant pattern. There are variable clinical features related to DiGeorge Syndrome. Most common ones are congenital heart diseases, thymic hypoplasia, learning difficulties, characteristic facial appearance, hypocalcemia, and psychotic disorders later in adoles...
متن کاملDiGeorge Syndrome (22q11.2 Deletion Syndrome) — Symptoms and Treatment
DiGeorge Syndrome results from microdeletion in a small segment of chromosome 22. When inherited from parents, it follows an autosomal dominant pattern. There are variable clinical features related to DiGeorge Syndrome. Most common ones are congenital heart diseases, thymic hypoplasia, learning difficulties, characteristic facial appearance, hypocalcemia, and psychotic disorders later in adoles...
متن کاملDiGeorge syndrome presenting as late onset hypocalcaemia in adulthood
We report a 29 year old female with mild dysmorphic facial features, presenting with late onset symptomatic hypocalcaemia in adulthood. The presence of hypoparathyroidism in association with a history of transient neonatal hypocalcaemia and velopharyngeal incompetence during childhood, prompted chromosomal analysis for DiGeorge Syndrome. Fluorescence in situ hybridisation (FISH) analysis reveal...
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ورودعنوان ژورنال:
- Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion
دوره 58 2 شماره
صفحات -
تاریخ انتشار 2011