BARDET–BEIDL SYNDROME WITH RICKETS
Journal Title: Stanley Medical Journal - Year 2016, Vol 3, Issue 2
Abstract
Bardet-Biedl syndrome (BBS) is a rare ciliopathic genetically heterogenous disorder with wide spectrum of clinical features. They present with varied signs and symptoms among affected individuals, even among members of the same family. The pattern of inheritance is autosomal recessive. They affect male and females equally. Here we report a case of 7 year old boy who presented with rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism, renal damage, speech disorder and developmental delay. He had chronic kidney disease with secondary hyperparathyroidism and renal rickets. Only less than 20 cases of BBS have been reported in India so far.
Authors and Affiliations
Ravichandran T, Stalin S, Prabu V, Kavitha D, Kavya P
Keywords
Related Articles
- EP ID EP217320
- DOI -
- Views 111
- Downloads 0
HIRAYAMA DISEASE –CERVICAL FLEXION MYELOPATHYA CASE REPORT
Hirayama disease, a kind of cervical myelopathy related to flexion movements of the neck. A healthy 19 year old male developed insidious onset of atrophy of muscles of left hand and forearm. MRI cervical spine non flexio...
Bronchogenic Carcinoma presenting as Neurological Manifestation
Pancoast tumour forms 1% - 3% of all bronchogenic carcinomas. A major issue with these tumours is the delay in diagnosis. This is because the tumour symptoms can be mimicked by numerous neurological or musculo-skeletal d...
Abuse Pattern, Perpetuating Factors And Co-Morbidity Issues Among Substance Users And Patients with Psychosis
Context: Substance Abuse is a common comorbidity with psychotic illnesses. Although several theories exist to explain this link, individual reasons for use may differ. Aims: The aim of this study was to evaluate abuse, p...
TYPES OF SEIZURE - AN OBSERVATIONAL STUDY IN INPATIENTS OF A TERTIARY TEACHING INSTITUTE.
BACKGROUND: This study was taken up to study the distribution of type of seizures among patients presenting with seizures in a tertiary care centre METHODS: This was an observational prospective study done from April 201...
The impact of altered maternal lipid profile levels on maternal and perinatal outcome in women with Gestational diabetes mellitus
Context: Gestational Diabetes Mellitus is associated with an increased risk of various short- and long- term adverse maternal outcomes and perinatal outcome. Aims: To identify the impact of altered lipid levels on matern...