Síndrome de Meckel-Gruber

Meckel, 1822, Beschreibung zweier, duch sehr änhliche Bil dungsabweichungen entstellter Geschwister, Dtsch Arch Physiol, 7, 99

Opitz, 1969, The Meckel syndrome (dysencephalia splachnocystica, the Gruber syndrome, Birth Defects, 5, 167

Fraser, 1981, Spectrum of anomalies in the Meckel syndrome, or: «Maybe there is a malformation syndrome with at least one constant anomaly», Am J Med Genet, 9, 63, 10.1002/ajmg.1320090112

Goodman, 1986, Síndrome de Meckel, 274

Rahilly, 1998, Sistema urinario, 291

Calmelet, 1997, Le syndrome de Meckel. Mise au point à propos d’un cas réci-divant, J Gynecol Biol Reprod, 26, 435

Hilson, 1952, Malformations of ears as sing of malformation of genito-urinary tract, Br Med J, 2, 785, 10.1136/bmj.2.5048.785

Hsia, 1971, Genetics of the Meckel Syndrome (dysencephalia splanchnocystica, J Pediatr, 48, 237, 10.1542/peds.48.2.237

Salonen, 1984, The Meckel syndrome: clinico-pathological findings in 67 patients, Am J Med Genet, 18, 671, 10.1002/ajmg.1320180414

Wright, 1994, Meckel syndrome: what are the minimum diagnostic criteria?, J Med Genet, 31, 482, 10.1136/jmg.31.6.482

Smith, 1965, A syndrome of multiple developmental defects including polycystic kidneys and in-trahepatic biliary dysgenesis in 2 siblings, J Pediatr, 67, 617, 10.1016/S0022-3476(65)80433-4

Kaplan, 1992, Malformaciones heredita-rias y congénitas de los riñones en el período neonatal, Clin Perinatol, 19, 203

Genuardi, 1993, Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformations, cystic kidneys, hepatic fibrosis, and polydactylt, Am J Med U ENET, 47, 50, 10.1002/ajmg.1320470111

Calmelet, 1995, Le syndrome de Meckel. Trois cas survenous chez une patiente ápres un mariage consanguin. Mémoire pour le certificat d’Université d’Echografie Gynécologi-que et Obstétricale

Cassamassima, 1987, A new syndrome with features of Smith-Lemli-Opitz and Meckel-Gruber syndrome in a sibship with cerebelar defects, Am J Med Genet, 26, 321, 10.1002/ajmg.1320260211

Rapola, 1985, Visceral anomalies in the Meckel syndrome, Teratology, 31, 193, 10.1002/tera.1420310204

Blankenberg, 1987, Pathology of renal and hepatic anomalies in Mec-kel syndrome, Am J Med Genet, 26, 395, 10.1002/ajmg.1320280546

Wilson, 1977, Handbook of Teratogenic Agents

Fouser, 1993, Normal and abnormal nephrogenesis 1993, Am J Kydney Dis, 21, 64, 10.1016/S0272-6386(12)80723-2

Newbould, 1994, Oligohydramnios sequence: the spectrum of renal malformation, Br J Obstet Gynaecol, 101, 598, 10.1111/j.1471-0528.1994.tb13650.x

Wering, 1967, Zur Histogenese der Gewebe der Menschli-chen Leber, Z Mikr-Anat Forsch, 76, 425

Lassau, 1967, Remarque sur l’organogenèse des vois biliares de l’homme, C R Assoc Anat, 52, 570

Blakenberg, 1991, Normal and abnormal development of human intra hepatic bile ducts. An in-munohistochemical prospective, Perspect Pediatr Pathol, 14, 143

Rahilly, 1998, Sistema digestivo, 219

Rahilly, 1998, Sistema nercvioso, 387

Khoury, 1982, Etiologic heterogeneity of neural to be defects: clues from epidemiology, Am J Epidemiol, 115, 538, 10.1093/oxfordjournals.aje.a113335

Seller, 1990, Neural tube defects: are neurulation and canalization froms causally distinct?, Am J Med Genet, 35, 394, 10.1002/ajmg.1320350316

Nijhuis, 1992, Fetal behaviour

Van Allen, 1993, Evidence for-multi-site closure of the neural tube in humans, Am J Med Genet, 47, 723, 10.1002/ajmg.1320470528

Rahilly, 1998, Sistema esquelético y miembros, 351

Hudome, 1994, Contribution of genetic disorders to neonatal mortality in a regional intensive care setting, Am J Perinatol, 11, 100, 10.1055/s-2007-994565

Bianchi, 2000, Exploración genética del recién nacido, 196

Shepard, 2000, Genética de los problemas habitua-les en el recién nacido, 200

Putschar, 1957, Congenital absence of the spleen and associated anomalies, Am J Clin Pathol, 26, 429, 10.1093/ajcp/26.5.429

Moller, 1967, Congenital cardiac disease associated with polysplenia, Circulation, 36, 789, 10.1161/01.CIR.36.5.789

Vellguth, 1985, The development of the human spleen. Ultrastructural studies in fetuses from the 14th to 24th week of gestation, Cell Tissue Res, 242, 579, 10.1007/BF00225424

Shen-Schwartz, 1988, Meckel syndrome with polyes-plenia: case report and review of the literature, Am J Med Genet, 31, 349, 10.1002/ajmg.1320310212

Rahilly, 1998, Sistema cardiovascular y linfático, 167

Warner, 1981, Ultra-sonographic parameters in the prenatal diagnosis of Meckel syndrome, Obstet Gynecol, 57, 388

Schmidt, 1982, Early diagnosis of severe congenital malformations by ultrasonography, J Perinatal Med, 10, 233, 10.1515/jpme.1982.10.5.233

Johnson, 1984, Prenatal diagnosis of Meckel syndrome: cases reports and literature review, Am J Med Genet, 18, 699, 10.1002/ajmg.1320180416

Meizner, 1987, Prenatal early so-nographic diagnosis of Meckel syndrome, Isr J Med Sci, 23, 902

Pachi, 1990, Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks’ gestational age in an at-risk case, Prenat Diagn, 9, 187, 10.1002/pd.1970090307

Phillip, 1990, Malformations congénitales: intérêt génétique ete étiologique, 9

Adjahoto, 1992, Diagnostic échographique d’un syndrome polymalformatif hé-réditaire: syndrome de Meckel-Gruber o syndrome de Carpenter-Hunter, J Gynecol Obstet Biol Reprod, 21, 928

Petitcolas, 1994, Intérêt de l’ecographie morfologique précoce pour la detection des anomalies chromosomiques, J Gynecol Obstest Biol Reprod, 23, 57

Timor-Tritsch, 1992, High-frequency transva-ginal sonographic examination for tile potential malformation assessment of the 9-week to 14-week fetus, J Clin Ultrasound, 20, 231, 10.1002/jcu.1870200403

Toi, 2000, Cerebro fetal, 379

Droulle, 1990, Système nerveux central et rachis, 42

Farag, 1909, Phenotipic variability in Meckel-Gruber syndrome, Clin Genet, 38, 176, 10.1111/j.1399-0004.1990.tb03568.x

Herriot, 1991, Dandy-Walker malformations in the Meckel syndrome, Am J Med Genet, 39, 308, 10.1002/ajmg.1320390218

Encha-Raazavi, 1992, Congenital hypothalamic ha-martoma syndrome: nosological discussion and minimum diagnostic criteric of a possibly familial form, Am J Med Genet, 42, 44, 10.1002/ajmg.1320420111

Nelsson, 1994, Polydactilia in a carrier of the gene for the Meckel syndrome, Am J Med Genet, 53, 207, 10.1002/ajmg.1320530302

Levaillant, 1995, L’ecographie du 3e millénaire. Application en gynécologie-obstétrique, Gynécologie Obstétrique Pratique, 31, 82

Van Wiymersch, 1995, Intérêt de l’ecographie tridi-mensionnelle obstétrique et gynècologie, Réf Gynecol Obs-tét, 73, XI

Van Wiymersch, 1995, Ecographie tansfontanellaire du cerveau foetal: cerveu normal, Médecine Fetale et Ecographie en Gynécologie, 22, 30

Shih, 1998, Antenatal depiction of the fetal ear with three-dimensional ultrasound, Obstet Gynecol, 91, 500, 10.1016/S0029-7844(98)00021-0

Merz, 1999, 3D Ultrasound in Obstetric and Gynecology

Bonilla-Musoles, 2000, Ear malformations, 151

Quintero, 1993, Tran-sabdominal thin-gause embryofetoscopy: a technique for early prenatal diagnosis and its use the diagnosis of a cause of Meckel-Gruber syndrome, Am J Obstet Gynecol, 168, 1552, 10.1016/S0002-9378(11)90797-2

Williamson, 1989, Magnetic resonance imaging of anomalous fetuses, Obstet Gynecol, 73, 952, 10.1097/00006250-198906000-00009

Lécolier, 1995, Bilan biologique foeto-maternel dand les dilatations ventriculaires, 163

O’Rahilly, 1998, Teratología y diagnóstico prenatal, 109

Dulard, 1988, L’électrophorése des cholinestérases du liquide amniotique dans le diagnostic prénatal des défauts de fermeture du tube neural, J Gynecol Obstet Biol Reprod, 17, 5

1990, Computer Power Group and the Murdoch Institute into Birth Defects Royal Childrens’ Hospital

Kalter, 1983, Congenital malformations, N Engl JMed, 308, 424, 10.1056/NEJM198302243080804

Goodman, 1986, Trisomía 13, 116

Bersu, 1997, Anatomical analysis of the developmental effects of aneuploidy in man-the 18-trisomy syndrome: Anomalies of the head and neck, Am J Med Genet, 1, 173, 10.1002/ajmg.1320010204

Goodman, 1986, Trisomía 18, 120

Carpenter, 1982, Micromelia, polysyndactyly, multiple malformations and fragile bonnes in a stillborn child, J Med Genet, 19, 311, 10.1136/jmg.19.4.311

Goodman, 1986, Síndrome de Carpenter, 224

Gadner, 1975, The Dandy-Walker and Arnold-Chiari malformations, Arch Neurol, 32, 393, 10.1001/archneur.1975.00490480059007

Daffos, 1988, Médicine et biologie du foetus hu-main

Bernstein, 1985, Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases, J Med Genet, 22, 46, 10.1136/jmg.22.1.46

Henriot, 1987, Diagnostic prénatal et médicine foetale (Collection des Abrégés de Médecine

Donnenfeld, 1987, Second trimester diagnosis of fetal skeletal dysplasias, Obstet Gynecol Surv, 42, 199, 10.1097/00006254-198704000-00002

Gershoni-Barnch, 1992, Cystic dysplasia and polydactyly in 3 sibs with Badet-Bield syndrome, Am J Med Genet, 44, 269, 10.1002/ajmg.1320440302

Lurie, 1993, expansion of the phenotypic spectrum, Am J Med Genet, 47, 405, 10.1002/ajmg.1320470322

Rossignol, 1995, Génétique

Paavola, 1995, The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24, Nature Genet, 11, 213, 10.1038/ng1095-213