Early in life, the child presented a developmental delay: crawling at 18 months, sitting at 24 months, speech acquisition after 3 1/2 years. [hindawi.com]

However, spectacles were advised as low vision was present in our patient, and regular ophthalmological follow-up was stressed upon. Accessory digits are often nonfunctional and may be excised. [ijdvl.com]

Case Reports Patient with Bardet-Biedl syndrome presenting with nystagmus at fifteen months of age M A Musarella. J AAPOS. 2001 Aug. [pubmed.ncbi.nlm.nih.gov]

These may be present at birth or may become noticeable as the child grows. For diagnosis, four primary symptoms should be present, or three primary plus two secondary symptoms. There is no specific test to detect the presence of BBS. [uhb.nhs.uk]

In 31% of the children and 42% of the adults with BBS chronic kidney disease is present. [dovepress.com]

• Developmental Delay

  Additional features include speech delay, developmental delay, diabetes mellitus, dental anomalies, congenital heart disease, brachydactyly (shortening of fingers/toes), ataxia, and anosmia/hyposmia (deficienct sense of smell). [clinicaltrials.gov]

  delay, 613094 GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 GJA1 Atrioventricular septal defect 3 600309 GJA1 Craniometaphyseal dysplasia, autosomal recessive, 218400 GJA1 Erythrokeratodermia [qgenomics.com]

  Early in life, the child presented a developmental delay: crawling at 18 months, sitting at 24 months, speech acquisition after 3 1/2 years. [hindawi.com]

  Secondary BBS phenotypes include hepatic fibrosis, diabetes mellitus, neurological impairment, speech deficits, behavioral abnormalities, craniofacial dysmorphism, dental irregularities, developmental delay, hypertension, cardiovascular abnormalities, [spandidos-publications.com]

  delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, and congenital heart disease [17,18,19,20]. [mdpi.com]

• Polydipsia

  Investigation of clinical symptoms as anemia, polyuria, and polydipsia, hypertension, urinary tract infection, renal colic, symptoms of neurogenic bladder or bladder outflow obstruction is important at each evaluation visit. [dovepress.com]

• Heart Disease

  These features may vary according to the type of the disease. Some secondary features reported in BBS, BBS12-related are diabetes, dental irregularities, heart disease, and behavioral issues. [myriad.com]

  Additional features include speech delay, developmental delay, diabetes mellitus, dental anomalies, congenital heart disease, brachydactyly (shortening of fingers/toes), ataxia, and anosmia/hyposmia (deficienct sense of smell). [clinicaltrials.gov]

  and minor features (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, and congenital heart disease [17,18,19,20]. [mdpi.com]

  Antibiotic prophylaxis will be considered in case of dental interventions in individuals with heart disease.20 The follow-up is done every 6 months starting from the age of 1 year old.6,12 Gastroenterology Liver disease (any abnormality on liver imaging [dovepress.com]

Debunking an Alleged Treatment on the Internet How do you know if a treatment is legit? There should be preclinical and clinical trial data published in a peer-reviewed journal on research for the treatment. Eye On the Cure Research News All Research [fightingblindness.org]

Weight changes were noted after 52 weeks of treatment. [dovepress.com]

In order to protect the reproductive capacity of the patient, GnRH analogs were used for CPP treatment. After 15 months of treatment and follow‑up, a physical examination revealed Tanner breast stage 1. [spandidos-publications.com]

Toxic causes related to 6-mercaptopurine treatment were also excluded by weaning him off the treatment for a prolonged time. [hindawi.com]

It is important to map both genotype and associated phenotype in order to provide optimal treatment and follow-up. Individuals with BBS, age 16 years or older, will be invited to participate. [clinicaltrials.gov]

What is the prognosis for an individual with Bardet-Biedl Syndrome, BBS12-related? Predicting symptoms and the course of the disease for individuals with BBS can be difficult due to the variable nature of the condition, even within families. [myriad.com]

On the Cure Research News Oct 6, 2016 Embrace Your Exceptions: A Mantra for Understanding Retinal-Disease Inheritance The complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis [fightingblindness.org]

However, more clinical data and molecular biological evidence are required to confirm the etiology and mechanism of this case. [spandidos-publications.com]

Etiologies of hepatitis were systematically explored. [hindawi.com]

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A. 2005;132:352-60. Karmous-Benailly H, Martinovic J, Gubler MC, et al. [rarediseases.org]

Eur J Hum Genet. 21:8–13. 2013.PubMed/NCBI View Article : Google Scholar 5 Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, et al: Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland [spandidos-publications.com]

The pathophysiology is not completely understood but recent studies confirmed the crucial role of proteins encoded by the BBS genes as components of the centrosome and/or basal body, and their implication either in the constitution of the primary cilia [hindawi.com]

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9): 620-627. Hufnagel RB, Arno G, Hein ND, et al. [rarediseases.org]

JAMA Pediatr. 174(e195881)2020.PubMed/NCBI View Article : Google Scholar 24 Grinspon RP, Ropelato MG, Bedecarrás P, Loreti N, Ballerini MG, Gottlieb S, Campo SM and Rey RA: Gonadotrophin secretion pattern in anorchid boys from birth to pubertal age pathophysiological [spandidos-publications.com]

Bardet–Biedl syndrome: genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620. Article Google Scholar Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S, et al. [ijponline.biomedcentral.com]

There are no proven effective treatments to either prevent or alleviate the deterioration in vision. However, spectacles were advised as low vision was present in our patient, and regular ophthalmological follow-up was stressed upon. [ijdvl.com]

Good diet management can prevent the weight-related problems that manifest in later life. Consulting with a primary care physician and a dietician can help in planning for adequate nutrition and prevention of excess weight gain. [rarediseases.org]

Discussion Studies on recessive diseases in Scandinavia are constrained by low consanguinity rate and small number of children, which prevents statistical significance of the clinical and genetic results for each family. [bjo.bmj.com]

At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]

[…] depletion (low-sodium diet, drink adequate amounts of water).74 Metabolic Syndrome Metabolic syndrome has an incidence of 54.3% in patients with BBS.24 Early detection of metabolic syndrome followed by appropriate treatment is necessary in order to prevent [dovepress.com]