Journal of the Medical Sciences (Berkala Ilmu Kedokteran)
Vol 17, No 03 (1985)

Sindroma Laurence-Moon-Bardet-Biedl

Ahmad Yusuf Aliridha, Ahmad Yusuf Aliridha (Unknown)



Article Info

Publish Date
18 Nov 2015

Abstract

A 10-year old Javanese boy suffering from Laurence-Moon-Bardet-Biedl Syndrome characterized by retinitis pigmentosa, myopia, polydactily, obesity, hypogenitalism and mental retardation has been reported. Family history showed that one of his brothers had also the same abnormalities, while his two other brothers as well as his parents were perfectly normal. The possibility of the transmission of this disease was X -linked recessive. For this patient, a comprehensive management by ophthalmologists, paediatricians, psychiatrists and surgeons was necessary. Special education was needed to handle his mental retardation and his visual disturbances, and genetic counseling was necessary for the patient and his family. Key Words: Laurence-Moon-Bardet-Biedl Syndrome - X-linked recessive gene - genetic counseling - retinitis pigmentosa - myopia

Copyrights © 1985






Journal Info

Abbrev

bik

Publisher

Subject

Immunology & microbiology Neuroscience

Description

Journal of the Medical Sciences (JMedSci) or Berkala Ilmu Kedokteran (BIK) is an international, open-access, and double-blind peer-reviewed journal, published by Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada Yogyakarta Indonesia. JMedSci aiming to communicate high-quality ...