Research & Literature

A case of hydrometrocolpos and polydactyly.

Sharma D, Murki S, Pratap OT, et al.

Clinical medicine insights. Pediatrics 2015; (9()):7-11 doi:10.4137/CMPed.S20787.

Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.

Starks RD, Beyer AM, Guo DF, et al.

PLoS genetics 2015; (11(6)):e1005311 doi:10.1371/journal.pgen.1005311.

A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.

Hulleman JD, Nguyen A, Ramprasad VL, et al.

Molecular vision 2016; (22()):73-81.

Bardet-Biedl Syndrome.

Suspitsin EN, Imyanitov EN

Molecular syndromology 2016; (7(2)):62-71 doi:10.1159/000445491.

Recurrent Urinary Tract Infections in a Female Child With Polydactyly and a Pelvic Mass: Consider the McKusick-Kaufman Syndrome.

Adam A, Hellig J, Mahomed N, Lambie L

Urology 2017; (103()):224-226 doi:10.1016/j.urology.2017.01.024.

Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.

Scott CA, Marsden AN, Rebagliati MR, et al.

PLoS genetics 2017; (13(7)):e1006936 doi:10.1371/journal.pgen.1006936.

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Ullah A, Umair M, Yousaf M, et al.

Molecular vision 2017; (23()):482-494.

Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.

Weihbrecht K, Goar WA, Pak T, et al.

Medical research archives 2017; (5(9)) doi:10.18103/mra.v5i9.1526.

Successful management of giant hydrocolpos in a limited-resource setting.

Reggiani G, Pizzol D, Trevisanuto D, Antunes M

Oxford medical case reports 2018; (2018(7)):omy031 doi:10.1093/omcr/omy031.

Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome.

Tavares E, Tang CY, Vig A, et al.

Molecular genetics & genomic medicine 2019; (7(2)):e00521 doi:10.1002/mgg3.521.

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.

Muzammal M, Zubair M, Bierbaumer S, et al.

Molecular genetics & genomic medicine 2019; (7(8)):e834 doi:10.1002/mgg3.834.

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.

Haq N, Schmidt-Hieber C, Sialana FJ, et al.

PLoS biology 2019; (17(9)):e3000414 doi:10.1371/journal.pbio.3000414.

A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl.

Mahmood SH, Khan M, Qadar LT, et al.

Cureus 2019; (11(9)):e5717 doi:10.7759/cureus.5717.

Congenital vaginal obstruction in a newborn.

Osman NM, Hamza AM, Elamin HAM

Sudanese journal of paediatrics 2019; (19(2)):145-148 doi:10.24911/SJP.106-1543747330.

Novel mutation in MKKS/BBS6 linked with arRP and polydactyly in a family of North Indian origin.

Goyal S, Singh IR, Vanita V

Clinical & experimental ophthalmology 2020; (48(3)):343-355 doi:10.1111/ceo.13719.

Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.

Katagiri S, Hosono K, Hayashi T, et al.

Documenta ophthalmologica. Advances in ophthalmology 2020; (141(1)):77-88 doi:10.1007/s10633-020-09752-5.

Fetal hydrometrocolpos with pre-axial mirror polydactyly as a new variant of McKusick-Kaufman syndrome.

Traisrisilp K, Nunthapiwat S, Luewan S, Tongsong T

Journal of clinical ultrasound : JCU 2021; (49(1)):62-65 doi:10.1002/jcu.22882.

Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome.

Pomeroy J, Krentz AD, Richardson JG, et al.

Pediatric obesity 2021; (16(2)):e12703 doi:10.1111/ijpo.12703.

Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant.

Muns SM, Montalvo LA, Vargas Del Valle JG, et al.

American journal of ophthalmology case reports 2020; (20()):100914 doi:10.1016/j.ajoc.2020.100914.

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.

Kousi M, Söylemez O, Ozanturk A, et al.

Nature genetics 2020; (52(11)):1145-1150 doi:10.1038/s41588-020-0707-1.

Local Anesthesia Alone for Postaxial Polydactyly Surgery in Infants.

Bjorklund KA, O'Brien M

Hand (New York, N.Y.) 2022; (17(6)):1286-1291 doi:10.1177/1558944721994255.

Imperforate Hymen: A Rare Cause of Abdominopelvic Mass in an Infant.

Dixit Thapa B, Regmi MC

Journal of Nepal Health Research Council 2021; (19(1)):201-202 doi:10.33314/jnhrc.v19i1.2927.

A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico.

Guardiola GA, Ramos F, Izquierdo NJ, Oliver AL

Clinical ophthalmology (Auckland, N.Z.) 2021; (15()):3757-3764 doi:10.2147/OPTH.S328493.

Bedside Intervention for Neonatal Hydrometrocolpos and Imperforate Hymen.

Nicassio LN, Cheng JW, Cain MP

Urology 2022; (160()):191-194 doi:10.1016/j.urology.2021.11.016.

Long-Term Outcomes After Treatment for Type B Ulnar Polydactyly.

Goebel GJ, Dawson S, Loewenstein SN, Adkinson JM

Journal of pediatric orthopedics 2022; (42(5)):e466-e469 doi:10.1097/BPO.0000000000002106.

A case of McKusick-Kaufman syndrome with perinatal diagnosis: Case report and literature review.

Ullah I, Rauf S, Ali S, et al.

Annals of medicine and surgery (2012) 2022; (79()):103926 doi:10.1016/j.amsu.2022.103926.

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet-Biedl Syndrome.

Dehghan R, Behnam M, Salehi M, Kelishadi R

Case reports in ophthalmological medicine 2022; (2022()):6110775 doi:10.1155/2022/6110775.

Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do.

Caba L, Florea L, Braha EE, et al.

Journal of multidisciplinary healthcare 2022; (15()):2153-2167 doi:10.2147/JMDH.S274739.

Ciliary signaling proteins are mislocalized in the brains of Bardet-Biedl syndrome 1-null mice.

Stubbs T, Bingman JI, Besse J, Mykytyn K

Frontiers in cell and developmental biology 2022; (10()):1092161 doi:10.3389/fcell.2022.1092161.

McKusick-Kaufman Syndrome: A Case Report With an Emphasis on Perinatal Diagnosis and Genetic Counseling.

Khanke S, Agrawal A, Toshniwal V, et al.

Cureus 2023; (15(4)):e37808 doi:10.7759/cureus.37808.

Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.

Ali A, Abdullah , Bilal M, et al.

Molecular biology reports 2023; (50(12)):9963-9970 doi:10.1007/s11033-023-08816-4.

Inpp5e Regulated the Cilium-Related Genes Contributing to the Neural Tube Defects Under 5-Fluorouracil Exposure.

Wang X, Yu J, Yue H, et al.

Molecular neurobiology 2024; (61(9)):6189-6199 doi:10.1007/s12035-024-03946-7.

Persistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome.

Thorat JV, Tambolkar S

Cureus 2024; (16(6)):e61957 doi:10.7759/cureus.61957.

Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.

Nowak-Ciołek M, Ciołek M, Tomaszewska A, et al.

Frontiers in endocrinology 2024; (15()):1424819 doi:10.3389/fendo.2024.1424819.

Postaxial polydactyly: A case report highlighting genetic context, epidemiological trends, and management options.

Yared G, Ghazal K, Younis A, et al.

SAGE open medical case reports 2024; (12()):2050313X241282215 doi:10.1177/2050313X241282215.

Primary Amenorrhea in a 15-Year-Old Girl Leading to the Diagnosis of Bardet-Biedl Syndrome: A Case Report.

Noor A, Kunwar D, Tasneem Z, Ishaq SA

Clinical case reports 2025; (13(1)):e70023 doi:10.1002/ccr3.70023.

The incomplete cloaca and Bardet-Biedl syndrome: A remarkable association with broader implications on patient's care.

AbouZeid AA, Sallam DE, Samak NM, et al.

Journal of pediatric urology 2025; (21(6)):1902-1911 doi:10.1016/j.jpurol.2025.04.016.

The CoULD Ulnar Polydactyly Classification: A Multicenter Analysis.

Mendenhall SD, Cordray H, Steinman SE, et al.

Plastic and reconstructive surgery 2025; doi:10.1097/PRS.0000000000012224.

MRI-based Stratification and Surgical Management of Hydrocolpos in Children and Adolescents.

AbouZeid AA, Elhady HE, Mohammad SA, et al.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2026; (36(2)):102-110 doi:10.1055/a-2680-6011.

Bardet-Biedl Syndrome in Four Siblings: Clinical and Genetic Insights From a Rare Familial Cluster.

Jena D, Pattanaik S, Sahoo SK, et al.

AACE endocrinology and diabetes 2026; (13(1)):22-26 doi:10.1016/j.aed.2025.08.019.

Congenital imperforate hymen in a newborn presenting with vaginal protrusion and abdominal distension: a rare case report.

Almoustafa F, Almustafa NE, Farag A, et al.

Journal of surgical case reports 2026; (2026(2)):rjag047 doi:10.1093/jscr/rjag047.