Rapunzel Syndrome in Congenital Mental Retardation Patient Requiring Emergency Laparotomy. Case report
نویسندگان
چکیده
منابع مشابه
Megalocornea-mental retardation syndrome: report of a new case.
Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). We present a new case in order to delineate with more accuracy the typical phenotype.
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INTRODUCTION Congenital bradycardia-tachycardia syndrome is a rare disorder. Its association with multiple congenital anomalies/mental retardation (MCA/MR) syndrome is exceptional. CASE PRESENTATION We report a case of a new association of MCA/MR with bradycardia-tachycardia syndrome in an 18-year-old Indian man. This syndrome is characterized by mental retardation with delayed development of...
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Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct facial appearance. SMS is caused by haploinsufficiency of RAI1 (deletion or mutation of RAI1). We describe an eight-year-old female Chinese patient with multiple malformations, congenital heart defect, mental retardation, ...
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1 Gastrointestinal Surgeon and Digestive Endoscopist. Gastroenterology and Endoscopy Coordinator at the Hospital Cardiovascular del Niño de Cundinamarca in Soacha, Cundinamarca Colombia. 2 Gastrointestinal Surgeon and Digestive Endoscopist at the Hospital Cardiovascular del Niño de Cundinamarca in Soacha, Cundinamarca Colombia and at Saludcoop and at the League Against Cancer in Bogotá, Colombi...
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Congenital diaphragmatic hernias constitute an infrequent but potentially serious presentation of bowel obstruction in the adult patient. Herein, we present a rare case of an adult patient with strangulation of colon within a Morgagni's hernia where timely recognition and intervention were life-saving. An 18-year-old female presented with an acute abdomen, respiratory failure, and shock seconda...
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ژورنال
عنوان ژورنال: Annals of Medicine and Surgery
سال: 2020
ISSN: 2049-0801
DOI: 10.1016/j.amsu.2020.08.026