Genomes and Genes
laurence moon syndrome
Summary: An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9)
- Soliman A, Rajab A, Alsalmi I, Asfour M. Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome. Metabolism. 1996;45:1230-4 pubmed..It appears that primary hypogonadism is a cardinal feature of BBS, and it may be accompanied by hypothalamic and pituitary abnormalities. ..
- Castle J, Roesen H, Schram A. Laurence-Moon-Bardet-Biedl syndrome and polydactyly. J Foot Ankle Surg. 1993;32:276-9 pubmed..A review of LMBBS and a case report is presented. The practitioner should be aware that polydactyly may be one manifestation of a genetic syndrome. ..
- Hauser C, Rojas C, Roth A, Schmied E, Saurat J. A patient with features of both Bardet-Biedl and Alström syndromes. Eur J Pediatr. 1990;149:783-5 pubmed..This suggests either that the Bardet-Biedl, Alström, Laurence-Moon syndromes (including the variant described by Edwards) have a highly variable expression or that our case is a new variant within this group of syndromes. ..
- Kalangu K. A further case of Bardet-Biedl syndrome. Cent Afr J Med. 1995;41:167-9 pubmed..The patient has a twin brother who has the same clinical signs. This is the second time this condition has been described in the African literature and the first time reported in Black twins. ..
- Barakat A, Butrus S, Faris B, Dabbagh S. Ocular abnormalities and renal disease: a review. Metab Pediatr Syst Ophthalmol (1985). 1985;8:27-34 pubmed..It also touches on these changes in some syndromes with major renal involvement...
- Sujkowski A, Rainier S, Fink J, Wessells R. Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants. PLoS ONE. 2015;10:e0145356 pubmed publisher..In addition, these results highlight the utility of negative geotaxis endurance as a new assay for longitudinal tracking of degenerative phenotypes in Drosophila. ..
- Zhu S, Gerhard D. A transcript map of an 800-kb region on human chromosome 11q13, part of the candidate region for SCA5 and BBS1. Hum Genet. 1998;103:674-80 pubmed..The gene for p70s6 k is expressed universally, including within adipose cells and retina, and it could play a role in Bardet-Biedl syndrome type 1, which has been mapped to 11q13. ..
- Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R. Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. Am J Med Genet. 1994;52:164-9 pubmed..Our findings of cardiac involvement in 50% of the cases suggest that echocardiographic examination should be included in the clinical evaluation and follow-up of patients with Bardet-Biedl syndrome. ..
- Bianco G, Carlesimo S, Mazzarrino R, Palestini M. [Atypical retinitis pigmentosa in Laurence-Moon-Biedl-Bardet syndrome. Report of a case of chronic renal insufficiency under periodic hemodialysis treatment]. Clin Ter. 1993;142:219-23 pubmed..The principal characteristics of this congenital syndrome are described. A possible pathogenetic mechanism of the atypical form of retinitis pigmentosa (sine pigmento) is discussed. ..
- Radetti G, Frick R, Pasquino B, Mengarda G, Savage M. Hypothalamic-pituitary dysfunction and Hirschsprung's disease in the Bardet-Biedl syndrome. Helv Paediatr Acta. 1988;43:249-52 pubmed..The importance of endocrine assessment of such patients who show disturbance of growth or puberty is emphasized. ..
- Osusky R, Alsaadi A, Farpour H. [Case report of Laurence-Moon-Bardet-Biedl syndrome]. Klin Monbl Augenheilkd. 1991;198:445-6 pubmed..He had an operation of the polydactily during childhood. This was not revealed at first. The case underlines the importance of an exact anamnesis of the parents. ..
- Colin D, Meunier P, Forestier D, Le Fur J, Le Guyader J, Bellet M. [The value of echography in the early diagnosis of renal lesions in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of a case]. J Radiol. 1989;70:61-4 pubmed..The authors consider renal sonography as the convenient investigation for an early detection of such dysplasia as in the case they reported here. ..
- Kobrin J, Ternand C, Knobloch W, Johnson D. Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome. Ophthalmic Paediatr Genet. 1990;11:299-303 pubmed..The reports over the last century have emphasized the varied expression from family to family and even differences among members of the same family. This report broadens the already pleomorphic nature of this syndrome. ..
- Cheng I, Chan K, Chan M, Kung A, Ma J, Wang C. Glomerulonephropathy of Laurence-Moon-Biedl syndrome. Postgrad Med J. 1988;64:621-5 pubmed..Nephrotic proteinuria responded to steroid therapy but mild proteinuria persisted. The findings were consistent with minimal change nephropathy superimposed on the glomerular lesions of Lawrence-Moon-Biedl syndrome. ..
- Capellini Q, Barba G. [Laurence-Moon-Biedl syndrome associated with tertiary hypothyroidism. A case report]. Minerva Med. 1991;82:591-4 pubmed..In this connection, on L-T4 administration, infect there was a complete recovery of the symptoms. This picture may confirm the hypothesis of a hypothalamic disfunction in the Laurence-Moon-Biedl syndrome. ..
- Steiner P. Bardet-Biedl syndrome. J Am Optom Assoc. 1990;61:852-5 pubmed..Presented here is a case report of a child first diagnosed with this condition. The importance of identifying the systemic signs, ocular involvement, electrophysiologic testing, genetics, and management are discussed. ..
- Iannaccone A, Vingolo E, Rispoli E, De Propris G, Tanzilli P, Pannarale M. Electroretinographic alterations in the Laurence-Moon-Bardet-Biedl phenotype. Acta Ophthalmol Scand. 1996;74:8-13 pubmed..Variable findings are in line with the documented genetic heterogeneity of the syndrome. ..
- Bek T, Rosenberg T. Clinical pathology and retinal vascular structure in the Bardet-Biedl syndrome. Br J Ophthalmol. 1995;79:76-80 pubmed..The findings are discussed in relation to possible pathophysiological mechanisms involved in the development of retinal dystrophy in the Bardet-Biedl syndrome. ..
- Ozer G, Yuksel B, Suleymanova D, Alhan E, Demircan N, Onenli N. Clinical features of Bardet-Biedl syndrome. Acta Paediatr Jpn. 1995;37:233-6 pubmed..The results are compared to previously published literature and discussed. ..
- Obikili A. Lawrence-Moon-Bardet-Biedl syndrome: a case report. West Afr J Med. 1990;9:239-41 pubmed..A case report of the rare Lawrence-Moon-Bardet-Biedl Syndrome in a 10-year old Nigerian boy is presented. The findings were obesity, mental retardation, polydactyly hypogonadism, macula degeneration and retinities pigmentosa. ..
- Grossniklaus H, Muir A, Bruner W, Annable W, Dickerman L, Johnson W. Sex chromosome aneuploidy and Bardet-Biedl syndrome. Ophthalmic Paediatr Genet. 1988;9:37-42 pubmed..The possible significance of sex chromosome aneuploidy and the Bardet-Biedl syndrome is discussed. ..
- Harnett J, Green J, Cramer B, Johnson G, Chafe L, McManamon P, et al. The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N Engl J Med. 1988;319:615-8 pubmed..Four patients had diffuse renal cortical loss, but only two of these had renal insufficiency. We conclude that Laurence-Moon-Biedl syndrome includes the presence of renal abnormalities. ..
- Urben S, Baugh R. Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome. Otolaryngol Head Neck Surg. 1999;120:571-4 pubmed..Polysyndactyly is a feature of both LMBBS and bifid epiglottis and may be an early hallmark for the presence of other congenital anomalies. ..
- Stefan C, Mercaş V. [The Laurence-Moon-Bardet-Biedl syndrome]. Oftalmologia. 1994;38:345-7 pubmed..It is presented a patient with atypical retinitis pigmentosa--unilateral, sectorial and hypopigmentary form, as part of the Laurence-Moon-Bardet-Biedl syndrome. ..
- Stoler J, Herrin J, Holmes L. Genital abnormalities in females with Bardet-Biedl syndrome. Am J Med Genet. 1995;55:276-8 pubmed..The association of atresia of the vagina and other malformations of female genital structures in individuals with Bardet-Biedl syndrome has often been missed in childhood and should be looked for more systematically. ..
- Jacobson S, Borruat F, Apathy P. Patterns of rod and cone dysfunction in Bardet-Biedl syndrome. Am J Ophthalmol. 1990;109:676-88 pubmed..In the two least-affected patients, a 13-year-old boy and the asymptomatic 45-year-old sibling of a patient, there were more rod than cone abnormalities as determined by electroretinography and static perimetry. ..
- Merino Angulo J, Barrio Arredondo M, Cartón Trigo F. [Bardet-Biedl syndrome: subclinical renal disorders in 2 siblings]. An Med Interna. 1992;9:493-4 pubmed..The study of the hypophyseal function was normal. ..
- Francois B, Cahen R, Trolliet P, Calemard E, Gilly J, Dumontel C. [Glomerular nephropathy in the Bardet-Biedl syndrome]. Nephrologie. 1987;8:189-92 pubmed..Glomerular damage with early ultrastructural changes of the GBM may be implicated in the occurrence of renal failure. Further studies are needed to define the incidence and the specificity of the GBM abnormalities in BBS. ..
- Cramer B, Green J, Harnett J, Johnson G, McManamon P, Farid N, et al. Sonographic and urographic correlation in Bardet-Biedl syndrome (formerly Laurence-Moon-Biedl syndrome). Urol Radiol. 1988;10:176-80 pubmed..On IVU, 21 patients had fetal-type lobular outlines that were detected on sonography in 95%. Renal structural abnormalities are characteristic of the Bardet-Biedl syndrome, and are still best imaged by urography. ..
- De Marchi S, Cecchin E, Bartoli E. Bardet-Biedl syndrome and cystinuria. Ren Fail. 1992;14:587-90 pubmed..It is unlikely that cystinuria may have contributed to the kidney damage. The possibility that mental retardation has been induced or aggravated by cystinuria cannot be excluded. ..
- Lin H, Lin T. Laurence-Moon-Biedl syndrome: report of two cases. J Formos Med Assoc. 1993;92:904-6 pubmed..Fundi showed typical retinitis pigmentosa. She also had genital agenesis but no significant family history. ..
- Kara I, Duzcan F, Aktan E. Laurence-Moon-Biedl syndrome with vaginal atresia. Scand J Plast Reconstr Surg Hand Surg. 2002;36:309-11 pubmed..She was treated by hysterectomy and construction of a neovagina with bilateral pudendal thigh flaps. Two brothers and a sister (one of twins) were unaffected but the remaining brother also had the disease. ..
- Zlotogora J. Selection for carriers of recessive diseases: a common phenomenon?. Am J Med Genet. 1998;80:266-8 pubmed..These observations are best explained by selection, which may be an important mechanism in the determination of the distribution of genetic disorders. ..
- Wolf B. Bardet-Biedl syndrome in a Zimbabwean child. Cent Afr J Med. 1991;37:341-2 pubmed..The patient presented with retinitis pigmentosa, polydactyly, mental retardation, obesity and hypogenitalism. To the best of the author's knowledge, it is the first paediatric case described in the African literature. ..
- Muratsuka Y, Nishihira O, Inoue H, Komune S. [Neuro-otological study of Laurence-Moon-Biedl syndrome]. Nihon Jibiinkoka Gakkai Kaiho. 1991;94:22-7 pubmed..The leftward OKN was limited and bilateral saccadic pursuits observed on eye tracking test. These results suggest that cerebellar of brain-stem lesions may be involved in L-M-B syndrome. ..
- Escallon F, Traboulsi E, Infante R. A family with the Bardet-Biedl syndrome and diabetes mellitus. Arch Ophthalmol. 1989;107:855-7 pubmed..Electroretinography showed severe cone and rod dysfunction. Patients with the Bardet-Biedl syndrome should be screened for the presence of abnormalities in glucose metabolism. ..
- Williams B, Jenkins D, Walls J. Chronic renal failure; an important feature of the Laurence-Moon-Biedl syndrome. Postgrad Med J. 1988;64:462-4 pubmed..The presence of renal impairment, occurring as frequently as any of the pentad of features that characterize the syndrome, has important implications for the prognosis and long term management of these patients. ..
- Riise R, Andreasson S, Tornqvist K. Full-field electroretinograms in individuals with the Laurence-Mood-Bardet-Biedl syndrome. Acta Ophthalmol Scand. 1996;74:618-20 pubmed..There is no intrafamilial variability of the electroretinograms in affected siblings. ..
- Riise R, Andreasson S, Borgaström M, Wright A, Tommerup N, Rosenberg T, et al. Intrafamilial variation of the phenotype in Bardet-Biedl syndrome. Br J Ophthalmol. 1997;81:378-85 pubmed..In addition, the course of retinal dystrophy varied. No distinctive clinical features were found to separate the BBS4 phenotype from the remaining patients. ..
- Barakat A, Arianas P, Glick A, Butler M. Focal sclerosing glomerulonephritis in a child with Laurence-Moon-Biedl syndrome. Child Nephrol Urol. 1990;10:109-11 pubmed..To our knowledge, FSGN has not been reported previously in patients with this syndrome. We wish to alert the clinician to the wide variety of renal abnormalities that can be seen in patients with this rare, autosomal recessive disorder. ..
- Riise R. Visual function in Laurence-Moon-Bardet-Biedl syndrome. A survey of 26 cases. Acta Ophthalmol Suppl. 1987;182:128-31 pubmed..The ocular examination showed the eye disease in cases of LMBB syndrome to be homogeneous and fulminant tapetoretinal degeneration of the retinitis pigmentosa type. ..
- Sheffield V, Carmi R, Kwitek Black A, Rokhlina T, Nishimura D, Duyk G, et al. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet. 1994;3:1331-5 pubmed..In addition, we demonstrate the feasibility of using pooled DNA samples from members of large kindreds as an efficient approach to homozygosity mapping. ..
- Lofterød B, Riise R, Skuseth T, Storhaug K. [Laurence-Moon-Bardet-Biedl syndrome]. Nord Med. 1990;105:146-8 pubmed..Mental retardation is usually included as a cardinal sign. Our impression is that most of the patients have normal intelligence. But this will be investigated further in a follow-up study on young people with LMBB. ..
- Farag T, Teebi A. Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. Clin Genet. 1988;33:78-82 pubmed..The apparently increased frequency of these interrelated autosomal recessive syndromes in Arabs is discussed in view of the high consanguinity rate and large family size. ..
- Chen C, Chung C, Cheng P, Chen C, Chen M. Linguistic and gait disturbance in a child with Laurence-Moon-Biedl syndrome: left temporal and parietal lobe hypoplasia. Am J Phys Med Rehabil. 2004;83:69-74 pubmed..Early comprehensive rehabilitation programs seem beneficial for improving functional development for children with Laurence-Moon-Biedl syndrome. ..
- Edwards J, Sethi P, Scoma A, Bannerman R, Frohman L. A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance. Am J Med. 1976;60:23-32 pubmed..This familial syndrome is distinct from either the Laurence-Moon, Bardet-Biedl or Alström disorders and provides further evidence of genetic heterogeneity in this group of autosomal recessive traits. ..
- Borgström M, Riise R, Tornqvist K, Granath L. Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome. J Oral Pathol Med. 1996;25:86-9 pubmed..In addition, the saliva showed a buffering capacity higher than normal. In conclusion, there seem to exist disturbances of both dental and skeletal formation in the LMBB syndrome. ..
- David A, Bitoun P, Lacombe D, Lambert J, Nivelon A, Vigneron J, et al. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. J Med Genet. 1999;36:599-603 pubmed..We strongly recommend all children seen in infancy with a diagnosis of MKKS to be re-evaluated for RP and other signs of BBS. ..
- Ritchie G, Jequier S, Lussier Lazaroff J. Prenatal renal ultrasound of Laurence-Moon-Biedl syndrome. Pediatr Radiol. 1988;19:65-6 pubmed..Large echogenic kidneys mimicking infantile polycystic kidneys were seen on prenatal ultrasound examination in a patient subsequently found to be affected by Laurence-Moon-Biedl syndrome. ..
- Croft J, Morrell D, Chase C, Swift M. Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. Am J Med Genet. 1995;55:12-5 pubmed..9% of all severely overweight white males carry a single BB gene. The BB parents of both sexes were also significantly taller than U.S. white men and women of comparable age. ..
- Riise R, Andreasson S, Wright A, Tornqvist K. Ocular findings in the Laurence-Moon-Bardet-Biedl syndrome. Acta Ophthalmol Scand. 1996;74:612-7 pubmed..The ocular disease in Laurence-Mood-Bardet-Biedl syndrome presents early, the prognosis for visual function is poor and the fundus features are atypical and varying. ..
- Diaz L, Grech K, Prados M. Hypothalamic hamartoma associated with Laurence-Moon-Biedl syndrome. Case report and review of the literature. Pediatr Neurosurg. 1991;17:30-3 pubmed..The clinical manifestations of this syndrome, those of hypothalamic hamartomas, and the appearance of the tumors on magnetic resonance images are discussed...