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Syndrome de Laurence-Moon-Bardet-Biedl
Quelqu’un pourrait-il me donner quelques renseignements ouréférences sur le "syndrome de Bardet-Bied", dont seul le nomne m’est pas inconnu...
Sans grande honte, mais avec quelque envie de progrès...
Très cordialement à vous.
Laurence - Moon - Bardet - Biedl : Dégénérescencerétinienne (ressemble à rétinopathie pigmentaire),
polydactylie, obésité, retard mental, hypogonadisme (çavaut mieux), dysplasie rénale et court sur pattes. Récessif,
pas encore complètement localisé carplurigénétique.
Un conseil :
et prendre Medline ; ça ira plus vite et c’est gratos !!
Yannick LE MER
S’agit-il du "Laurence Moon ( +Bardet pour les français ?)
Syndrome polymalformatif +hypogonadisme+retard mental + rétinopathiepigmentaire +strabisme +colobome uvee +...Transmission variable ?
A mon avis ça doit être dans le rapport de la SFO del’an dernier enattendant des avis plus autorisés que le mien
Il s’agit de plusieurs syndromes assez proches qui donnent le plussouvent une atteinte visuelle de type dystrophie mixte cone-batonnet. Unbilan électrophysiologique rétinien, une angio, une visiondes couleurs, un champ visuel goldmann sont indispensables pour affirme lediagnostic et surtout le pronostic (mais pas toujours possibles chezl’enfant).
Voici quelques lignes extraites d’un topo de Bernard PUECH beaucouptrop modeste sur cette liste mais à mon avis l’un des meilleursophtalmologiste spécialisés dans ces syndromes rares etdifficiles.
1) Bardet-Biedl (syndrome de). Autosomique récessif. MIM*209900pour la forme 2 et 209901 pour la forme 1, Autosomique récessif".
Syndrome caractérisé par une polydactylie, une rétinitepigmentaire, un retard mental, une obésité et un hypogonadisme.
La polydactylie est postaxiale et peut être réduite à
un bourgeon, la syndactylie est également fréquente. Larétinite pigmentaire est atypique puisque accompagnée d’unnystagmus et sans pigment au début alors que l’ERG est déjà
très altéré, son évolution est sévèrepuisqu’elle abouti à la cécité. Le retard mental estassez marqué. Il existe une dystrophie adiposo-génitale avechypogénitalisme et parfois selle turcique vide. Le rein peut êtremultikistique avec des diverticules caliciels. Le locus a été
localisé en 16q21. Il a été localisé trois locipour le syndrome de Bardet Biedl en 16q21, en 11q 13 et en 15q22.En 1925Solis Cohen et Weiss (1925) ont sugéré de réunirLaurence-Moon et Bardet-Biedl, en 1982, Schatchat et Maumenee (1982) ontrevu la nosographie de ces syndromes et les ont à nouveauséparés. Le syndrome de Laurence Moon présente unePARAPLEGIE, n’a pas de polydactylie et d’obésité. Le syndromede Bardet Biedl présente des anomalies rénales trésfréquentes et une fibrose hépatique.2"
Syn BBS, syndrome opto-rétino-gonado-digital, BBS1,
3) Laurence Moon (syndrome de) MIM*245800 Autosomique récessifRetard mental, rétinite pigmentaire, hypogénitalisme, ataxie,
paraplégie spastique Débute vers 5 ou 6 ans, retard mentaldiscret, hypogonadisme, ataxie, paraplégie spastique et épilepsiepossible. La rétinite pigmentaire est de type poivre et sel.
L’hypogonadisme est d’origine centrale avec taux de FSH et de LH souventbas absence de réponse de l’hypophyse à la Gn RH hypothalamiqueet concentration de testostérone et d’oestradiol basses. L’hormonede croissance est également basse.
Syn. syndrome opto-rétino-gonadique. Laurence J.Z. et MoonR.C. 1866
Voir E.M.C. Ophtalmologie 21470 A 50, Les syndromes oculo-auditifs,
Voir également Laurence-Moon-Bardet-Biedl.
Marc Abitbol avait fait une remarquable mise au point sur ces syndromes.
Pourrait-il nous la redonner ? ou notre webmaster ?
This condition is characterized by mental retardation, pigmentaryretinopathy, polydactyly, obesity, and hypogenitalism, and has incorrectlybeen called LMBB (Laurence-Moon-Bardet-Biedl) syndrome. Ammann (1970) pointedout that these features were present in the patients of Biedl (1922) andBardet (1920), but that the patients of Laurence and Moon had a distinctdisorder with paraplegia and without polydactyly and obesity (see Laurence-Moonsyndrome, 245800).
As indicated by Ammann’s study, residual heterogeneity may exist evenafter the Laurence-Moon syndrome is separated.
Clearly Biemond syndrome II (210350 ; iris coloboma, hypogenitalism,
obesity, polydactyly and mental retardation) is distinct, as is Alstrom syndrome
(203800 ; retinitis pigmentosa, obesity, diabetes mellitus and perceptivedeafness). Schachat and Maumenee (1982) reviewed the nosography of theseand related syndromes. Renal abnormalities appear to have a high frequencyin the Bardet-Biedl syndrome (Alton and McDonald, 1973). Klein (1978) observed57 cases of Bardet-Biedl syndrome in Switzerland. Fifteen affected individualsoccurred in one inbred pedigree and 7 in a second. Pagon et al. (1982) reporteda 2-year-old boy with the Bardet-Biedl syndrome (retinal dystrophy,
polydactyly, mental retardation, and mild obesity) who died of renal failureand was found to have hepatic fibrosis. They reviewed both earlier reportedcases and other autosomal recessive entities that combine retinal dystrophy,
hepatic fibrosis and nephronophthisis. Harnett et al. (1988) evaluated 20of 30 patients with Bardet-Biedl syndrome identified from ophthalmologicrecords in Newfoundland. All had some abnormality in renal structure, function,
or both. Most had minor functional abnormalities and a characteristic radiologicappearance, but to date (the mean age was 31 years) only 3 of the 20 hadend-stage renal disease, with 2 requiring maintenance hemodialysis. Halfthe subjects had hypertension. Calyceal clubbing or blunting was evidentin 18 of 19 patients studied by intravenous pyelography ; 13 had calycealcysts or diverticula. Of the 19 patients, 17 had lobulated renal outlinesof the fetal type.
Farag and Teebi (1988) concluded that the frequency of both theBardet-Biedl and the Laurence-Moon syndromes is increased in the Arab populationof Kuwait. Farag and Teebi (1989) pointed to a high frequency of the Bardet-Biedlsyndrome among the Bedouin ; the estimated minimum prevalence was 1 in 13,500.
Green et al. (1989) examined 32 patients with Bardet-Biedl syndrome for someor all of the cardinal manifestations of the disorder. Of 28 patients examined,
all had severe retinal dystrophy, but only 2 had typical retinitis pigmentosa.
Polydactyly was present in 18 of 31 patients ; syndactyly, brachydactyly,
or both were present in all patients. Obesity was present in all but 1 of25 patients. Only 13 of 32 patients were considered mentally retarded. Scoreson verbal subsets of intelligence were usually lower than scores on performancetasks. Of 8 men, 7 had small testes and genitalia, which was not due tohypogonadotropism. All 12 women studied had menstrual irregularities and3 had low serum estrogen levels (1 of these had hypogonadotropism and 2 hadprimary gonadal failure). Diabetes mellitus was present in 9 of 20 patients.
Renal structural or functional abnormalities were present in all 21 patientsstudied, and 3 patients had end-stage renal failure. On the basis of a studyof 75 relatives in 5 generations of the extended family of 2 adult Bardet-Biedlsibs, Croft and Swift (1990) suggested that heterozygotes have an increasedfrequency of obesity, hypertension, diabetes mellitus, and renal disease.
They pointed out that homozygotes have hepatic disease. Gershoni-Baruch etal. (1992) emphasized the occurrence of cystic kidney dysplasia in Bardet-Biedlsyndrome. They commented on the fact that the combination of cystic kidneydysplasia and polydactyly occurs also in Meckel syndrome (249000) and inthe short rib-polydactyly syndromes (e.g., 263530) and that usually thesesyndromes are easy to differentiate. They observed 3 sibs with cystic kidneydysplasia and polydactyly who were thought to have Meckel syndrome untilextinguished responses on electroretinography were detected in one of them,
aged 3.5 years. In 19-year-old female twins and their 22-year-old sister,
Chang et al. (1981) described hypogonadotropic hypogonadism with primaryamenorrhea and lack of secondary sexual development, associated with retinitispigmentosa.
Kwitek-Black et al. (1993) performed linkage studies in a large inbredBedouin family from the Negev region of Israel. All 9 affected persons hadpolydactyly and pigmented retinopathy. Linkage and the candidate gene approachwere used to exclude all known autosomal pigmented retinopathy loci. Thereafter,
a genome-wide search for linkage was conducted using short tandem repeatpolymorphisms (STRPs). By this approach, they identified linkage of the BBSlocus to markers that mapped to 16q21. Maximum likelihood calculations for2-point linkage between D16S408 and the disease phenotype resulted in Z =
4.2 at theta = 0.0. A multilocus lod score of 5.3 was observed. By demonstratinghomozygosity in all affected individuals for the same allele of marker D16S408,
further support for linkage was found, and the utility of homozygosity mappingusing inbred families was demonstrated. In a second family with BBS froma different Bedouin tribe and unrelated to the first family, linkage to thesame chromosome 16 markers was excluded over a stretch of at least 20 cMcentered on marker D16S408. The symbol BBS2 was used for the locus on chromosome16 and BBS1 (209901) to for non-chromosome 16 locus (McAlpine, 1994).
Stoler et al. (1995) described 2 unrelated girls with Bardet-Biedlsyndrome who also had vaginal atresia. A similar association was suggestedin reports of 11 BBS females who had structural genital abnormalities (someof which were missed in childhood), including persistent urogenital sinus ;
ectopic urethra ; hypoplasia of the uterus, ovaries, and fallopian tubes ;
uterus duplex ; and septate vagina. Mehrotra et al. (1997) observed 2 sisterswith the Bardet-Biedl syndrome, 1 of whom had congenital hydrometrocolpos.
This infant also had tetramelic postaxial polydactyly, making the diagnosisof Kaufman-McKusick syndrome (236700) a possibility in the neonatal period.
However, as a teenager she was evaluated for poor vision and found to havemental deficiency, obesity, poor visual acuity, end gaze nystagmus, tapetoretinaldegeneration, and extinguished electroretinogram. Her older sister had similareye complaints ; she likewise was born with tetramelic postaxial polydactylyand was also mentally retarded.
In Bedouin families in the Negev region of Israel, presumably thesame kindreds as those studied by Kwitek-Black et al. (1993), Elbedour etal. (1994) performed echocardiographic evaluations of cardiac involvementin BBS. They stated that they found cardiac involvement in 50% of cases,
justifying inclusion of echocardiographic examination in the clinical evaluationand follow-up of these patients. However, their table 1 gives echocardiographicabnormality in only 7 of 22 cases and these included 1 case of bicuspid aorticvalve, 1 case of mild thickening of the interventricular septum, 1 case of
’moderate tricuspid regurgitation,’ and 1 case of mild pulmonic valve stenosis.
The occurrence of renal abnormality in 11 of the 22 patients on kidneyultrasonography was somewhat more impressive than the cardiacinvolvement.
Islek et al. (1996) described a boy with postaxial polydactyly andHirschsprung disease (142623) found at the age of 3 months. Follow-up examinationat the age of 7 years showed obesity, mental retardation, retinitis pigmentosa,
microphallus, and cryptorchidism. The diagnosis of Bardet-Biedl syndromewas established. According to Islek et al. (1996), 2 other cases of associationof Bardet-Biedl syndrome and Hirschsprung disease have been reported.
Croft et al. (1995) studied obesity and hypertension among on homozygousrelatives of BBS patients, hypothesizing that BBS heterozygotes might bepredisposed to these conditions. Among 34 parents of BBS homozygotes (obligateheterozygotes), a proportion of severely overweight fathers (26.7%) weresignificantly higher than that in comparably aged U.S. white males (8.9%).
They concluded that the BBS gene may predispose male heterozygotes to obesity.
If heterozygotes represent 1% of the general population, they estimated thatapproximately 2.9% of all severely overweight white males carry a singleBBS gene. The BBS parents of both sexes were also significantly taller thanU.S. white men and women of comparable age.
Carmi et al. (1995) compared the clinical manifestations of BBS in3 unrelated, extended Arab-Bedouin kindreds in which linkage had beendemonstrated to chromosome 3 (BBS3 ; 600151), 15 (BBS4 ; 600374), and chromosome16 (BBS2). Observed differences included the limb distribution of the postaxialpolydactyly and the extent and age-association of obesity. It appeared thatthe chromosome 3 locus is associated with polydactyly of all 4 limbs, whilepolydactyly of the chromosome 15 type is mostly confined to the hands. Onthe other hand, the chromosome 15 type is associated with early-onset morbidobesity, while the chromosome 16 type appears to present the ’leanest’ endof BBS. Future cloning of the various BBS genes should contribute to theunderstanding of the molecular basis of limb development and to theidentification of human obesity-related genes.
In a study of 19 BBS families of mixed but predominantly Europeanethnic origin, Bruford et al. (1997) obtained results showing that an estimated36 to 56% of the families were linked to 11q13. A further 32 to 35% of thefamilies were linked to 15q22.3-q23. Three consanguineous families showedhomozygosity for 3 adjacent chromosome 15 markers, consistent with identityby descent for this region. In one of these families haplotype analysis reporteda localization for BBS4 between D15S131 and D15S114, a distance of about2 cM. Weak evidence of linkage to 16q21 was observed in 24 to 27% of families.
A fourth group of families, estimated at 8%, were unlinked to all 3 of theabove loci. Bruford et al. (1997) found no evidence of linkage to markerson chromosome 3, corresponding to the BBS3 locus, or on chromosome 2 or 17,
arguing against the involvement of a BBS locus in a patient with Bardet-Biedlsyndrome and a t(2 ;17) translocation reported by Dallapiccola (1971).
Bell (1958) ; Chanmugam et al. (1977) ; Ciccarelli and Vesell (1961)
; Haning et al. (1980) ; Kalbian (1956) ; Solis-Cohen and Weiss (1924)
; Toledo et al. (1977)
Il y a actuellement au moins 4 locus de Syndrome de BARDET BIEDL surles chromosomes 3, 11, 15 et 16
Quant au syndrome de LAURENCE- MOON
The features in the 4 sibs reported by Laurence and Moon (1866) andlater by Hutchinson (1882, 1900) were mental retardation, pigmentary retinopathy,
hypogenitalism, and spastic paraplegia. The disorder is distinct from thatdescribed by Bardet and Biedl (see Bardet-Biedl syndrome, 209900). Unfortunately,
until recently, most authors adopted the designation suggested by Solis-Cohenand Weiss (1925), Laurence-Moon-Biedl-Bardet syndrome. Schachat and Maumenee
(1982) reviewed the nosography of these and related syndromes. The Laurence-Moonsyndrome (strictu sensu) is the same as the disorder reported by Kapuscinski
(1934). The family reported by Bowen et al. (1965) probably had this syndrome.
Whitaker et al. (1987) studied the pituitary gland in the autopsy tissuesof a 17-year-old patient who, according to their estimation, had theLaurence-Moon syndrome. The same patient, however, was reported by Kearnsand Sayre (1958) as 1 of 2 cases with an unusual syndrome which has subsequentlycome to be called Kearns-Sayre syndrome (530000). For what it is worth, Whitakeret al. (1987) found by morphologic and immunocytochemical studies no abnormalityof the pituitary to account for the hypogonadism that the patient showed.
Farag and Teebi (1988) concluded that both the Bardet-Biedl and the Laurence-Moonsyndromes are increased in the Arab population of Kuwait.
Voir en ligne : débats Listesnof : syndrome de Laurence-Moon-Bardet-Biedl