Benjamin syndrome

Benjamin syndrome
Other namesBenjamin anemia

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]

References

  1. ↑ Firkin, Barry G.; Whitworth, Judith A. (2001). Dictionary of medical eponyms (2nd ed.). Informa Health Care. p. 30. ISBN 978-1-85070-333-4.
  2. ↑ Bartolucci, Susan L; Stedman, Thomas Lathrop; Forbis, Pat (2005). Stedman's medical eponyms (2nd ed.). Lippincott Williams & Wilkins. p. 63. ISBN 978-0-7817-5443-9.
  3. ↑ Benjamin E (1911). Über eine selbständige Form der Anämie im frühen Kindersalter. Verh Deut Ges Kinderh, 1911,119-24.
  4. ↑ Jablonski, Stanley (1991). Jablonski's dictionary of syndromes & eponymic diseases. Krieger Pub. Co. ISBN 978-0-89464-224-1
This article is issued from Offline. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.