词条 | Benjamin syndrome |
释义 |
| name = | synonym = Benjamin anemia | image = | image_size = | alt = | caption = | pronounce = | specialty = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Benjamin Syndrome is a type of multiple congenital anomaly/intellectual disability (MCA/MR) syndrome. It is characterized by hypochromic anemia with intellectual disability and various craniofacial and other anomalies.[1] It can also include heart murmur, dental caries and splenic tumors.[2] It was first described in the medical literature in 1911.[3] Symptoms include megalocephaly, external ear deformities, dental caries, micromelia, hypoplastic bone deformities, hypogonadism, hypochromic anemia with occasional tumors, and intellectual disability.[4] References1. ^{{cite book | last1 = Firkin | first1 = Barry G. | last2 = Whitworth | first2 = Judith A. | year = 2001 | edition = 2nd | title = Dictionary of medical eponyms | publisher = Informa Health Care | isbn = 978-1-85070-333-4 | page = 30 }} 2. ^{{cite book | last1 = Bartolucci | first1 = Susan L |author2=Stedman, Thomas Lathrop |author3=Forbis, Pat | year = 2005 | edition = 2nd | title = Stedman's medical eponyms | publisher = Lippincott Williams & Wilkins | isbn = 978-0-7817-5443-9 | page = 63 }} 3. ^Benjamin E (1911). Über eine selbständige Form der Anämie im frühen Kindersalter. Verh Deut Ges Kinderh, 1911,119-24. 4. ^Jablonski, Stanley (1991). [https://www.nlm.nih.gov/archive/20061212/mesh/jablonski/cgi/jablonski/syndrome_cgib91e.html Jablonski's dictionary of syndromes & eponymic diseases.] Krieger Pub. Co. {{ISBN|978-0-89464-224-1}} External links
4 : Congenital disorders|Syndromes affecting blood|Genetic disorders with no OMIM|Rare syndromes |
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