Skip to main content
SpringerLink
Log in

Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

We describe four cases with signs resembling those of Meckel syndrome. Two cases demonstrated postaxial polydactyly; one case, preaxial polydactyly; and one case, pre- and postaxial polydactyly. Since there is at least one other reported case with preaxial polydactyly, it may be a rare sign of the Meckel syndrome. In all four cases, various degrees of bowing of the long tubular bones were observed. Since at least two cases exhibited typical Meckel syndrome and since in a few further reported cases X-ray examination revealed bowing of long tubular bones, this sign is considered to be a further, hitherto not well recognized sign of the Meckel syndrome, and not grounds for delineation of a new syndrome. An extensive review of the literature revealed, that shortened and bowed extremities may be present in about one-sixth of all cases with Meckel syndrome.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Alfieri P (1946) Contributo alla conoscenza delle disencefalie splanchnocistiche. Arch Ital Anat Istol Patol 19:342–355

    Google Scholar 

  • Altmann P, Wagenbichler P, Schaller A (1977) A casuistic report on the Gruber or Meckel syndrome. Hum Genet 38:357–362

    Google Scholar 

  • Aula P, Karjalainen O, Rapola J, Lindgren J, Seppälä M (1977) Prenatal diagnosis of the Meckel syndrome. Am J Obstet Gynecol 129:790–702

    Google Scholar 

  • Babes (1904) Die Beziehung von Entwicklungsanomalien am Gesicht zu überzähligen Fingern und Zehen. Zentralbl Allg Pathol Anat 15 (Suppl): 110–114

    Google Scholar 

  • Battgalia S, Locatelli L (1956) Malattia di Gruber c Giordano. Fol Hered Pathol 5:259–276

    Google Scholar 

  • Brückner C (1869) Zweimaligen Entbindung derselben Frau von Mißgeburten mit vergrößerten Nieren. Virchows Arch Pathol Anat 46:503–506

    Google Scholar 

  • Calmann A (1893) Ein Beitrag zur Casuistik der Mißbildungen an Zunge und Kehlkopf. Virchows Arch Pathol Anat 134:337–343

    Google Scholar 

  • Chemke J, Miskin A, Rav-Acha Z, Porath A, Sagiv M, Katz Z (1977) Prenatal diagnosis of Meckel syndrome: alpha-fetoprotein and beta-trace protein in amniotic fluid. Clin Genet 11:285–289

    Google Scholar 

  • Crawfurd Md'A, Jackson P, Kohler HG (1978) Case report: Meckel's syndrome (Dysencephalia splanchnocystica) in two Pakistani sibs. J Med Genet 15:242–245

    Google Scholar 

  • Duncan PA, Klein RM, Wilmot PL, Shapiro LD (1979) Greig cephalopolysyndactyly syndrome. Am J Dis Child 133:818–821

    Google Scholar 

  • Duyse van (1900) Pathogénie des kystes colobomateux rétropalpébraux. Arch d'Ophthalmol 20:358–375

    Google Scholar 

  • Fitch N, Pinsky L (1973) The Meckel syndrome with limited expression in relatives. Clin Genet 4:33–37

    Google Scholar 

  • Förster A (1862) Mitteilung aus der pathologisch-anatomischen Anstalt zu Würzburg. Würzburger Med Zeitschrift 3:193–210

    Google Scholar 

  • Fraser FC, Lytwyn A (1981) Spectrum of anomalies in the Meckel syndrome, or: “May be there is a malformation syndrome with a least one constant anomaly”. Am J Med Genet 9:67–73

    Google Scholar 

  • Fried K, Liban E, Lurie M, Friedman S, Reisner SH (1971) Polycystic kidneys associated with malformations of the brain, polydactyly, and other birth defects in other newborn sibs. J Med Genet 8: 285–290

    Google Scholar 

  • Friedrich U, Hansen KB, Hauge M, Hägerstrand I, Kristoffersen K, Ludvigsen E, Merrild U, Nørgaard-Pedersen B, Petersen GB, Therkelsen AJ (1979) Prenatal diagnosis of polycystic kidneys and encephalocele (Meckel syndrome). Clin Genet 15:278–286

    Google Scholar 

  • Fryns JP, Vandenberghe K, van Assche FA, Cassiman JJ, von den Berghe H (1980) Prenatal diagnosis of Meckel syndrome. J Genet Hum 28:89–94

    Google Scholar 

  • Gibb B (1962) Das angeborene Zystenpancreas. Zentralbl Allg Pathol 103:524–528

    Google Scholar 

  • Giordano A (1933) Amartoma bilaterale dei reni in neonato. Arch Ital Urol 10:365

    Google Scholar 

  • Giordano A (1936) Contributo allo studio delle sindromi malformative dysencephalia splanchnocystica e sindrome anencefalcia. Pathologica 28:361–369

    Google Scholar 

  • Giordano A (1949) Contributi morfologici e genealogici al problema dell'ereditarietà dell'anencefalia della disencefalia splancnocistica e del rene policistico dell'adulto. Bollett Societ Medico-Chirurg Pavia 5–6:1–41

    Google Scholar 

  • Gruber W (1859) Missbildungen. Mémoires de l'Acad Imp Sci (St Petersburg):1–13

  • Gruber GB (1934) Beiträge zur Frage “gekoppelter” Mißbildungen (Akrocephalosyndactylie und Dysencephalia splanchnocystica). Beitr Pathol Anat 93:459–476

    Google Scholar 

  • Hall BD, Spranger J (1980) Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases. Eur J Pediatr 133:131–138

    Google Scholar 

  • Holmdahl DE (1951) Rhachischisis. Eine vom Entwicklungsmechanischen Gesichtspunkt lehrreiche Mißbildung. Roux Arch Entwicklungsmech 144:626–642

    Google Scholar 

  • Holmes LB, Driscoll SG, Atkins L (1976) Etiologic heterogeneity of neural tube defects. N Engl J Med 294:365–369

    Google Scholar 

  • Hsia YE, Bratu M, Herbordt A (1971) Genetics of the Meckel syndrome (dysencephalia splanchnocystica). Pediatrics 48:237–247

    Google Scholar 

  • Joly MN (1866) Etudes surun monstre humain né à Toulouse, et affecté tout à la fois d'exencéphalie, de pied bot, de polydactyly, d'hermaphrodisme et d'inversion splanchnique générale. CR Acad Sci Tome I (Paris):1123–1126

    Google Scholar 

  • Karjalainen O, Aula P, Seppälä M, Hartikainen-Sorri A-L, Ryynänen M (1981) Prenatal diagnosis of the Meckel syndrome. Obstet Gynecol 57:13s-15s

    Google Scholar 

  • Kemperdick H, Ammermann M, Janssen F, Lange H, Moubayed P (1975) Zur Differentialdiagnose des Meckel-Syndroms und Ellisvan Crefeld-Syndroms mit Enzephalozele. Klin Pädiatr 187:87–93

    Google Scholar 

  • Kozlowski K, Masel J, Morris L, Ryan J, Collins E, van Vliet P (1977) Neonatal death dwarfism (Report of 17 cases). Australas Radiol 21:164–183

    Google Scholar 

  • Lange C de (1930) Zum Studium der Encephalocele posterior. Jahrb Kinderheilk 126:253–288

    Google Scholar 

  • Lauras B, Fraisse J, Faugeroux F, La Selve A, Robert J-M, Freycon F (1976) Syndrome de Meckel. Pediatrie 31:435–445

    Google Scholar 

  • Lenz W (1966) Morphologische und genetische Gesichtspunkte zur Nosologie generalisierter Skelett-Anomalien. In Wiedemann HR (ed) Dysostosen. G Fischer, Stuttgart

    Google Scholar 

  • Leschot NJ, de Nef JJ, Becker-Bloemkolk MJ, Verjaal M, Wiesenhaan PF (1978) Prenatal diagnosis of Meckel syndrome. Hum Genet 43:333–336

    Google Scholar 

  • Levin EG (1895) Anatomische Untersuchung eines Kindes mit Polydactylie aller vier Extremitäten und anderweitigen Mißbildungen. MD thesis, Berlin

  • Lundin PM, Olow I (1961) Polycystic kidneys in newborns, infants and children. A clinical and pathological study. Acta Paediatr 50:185–200

    Google Scholar 

  • Malpuech G, Palchoux JB, Desbordes AM, Dalens B (1979) Syndrome de Meckel: Genealogie inhabituelle. J Genet Hum 27: 167–174

    Google Scholar 

  • Marshall R, Newnham RE, Rawstron JR, Ellis JR, Stevens LJ (1964) Features of 13–15 trisomy syndrome with normal karyotype. Lancet I:556

    Google Scholar 

  • Mecke S, Passarge E (1971) Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome. Ann Genet 14:97–103

    Google Scholar 

  • Meckel JF (1822) Beschreibung zweier, durch sehrähnliche Bildungsabweichungen entstellter Geschwister. Dtsch Arch Physiol 7:99–172

    Google Scholar 

  • Meitner ER (1961) Eine Beobachtung von “Chondrodysplasia triodermica”. Zentralbl Allg Pathol 102:393–398

    Google Scholar 

  • Meyenburg H von (1918) Über die Cystenleber. Beitr Pathol Anat Pathol 64:477–532

    Google Scholar 

  • Miller JQ, Selden RF (1967) Arhinencephaly, encephalocele, and 13–15 trisomy syndrome with normal chromosomes. Neurology 17: 1087–1091

    Google Scholar 

  • Moerman Ph, Verbeken E, Fryns JP, Goddeeris P, Lauweryns JM (1982a) Association of Meckel syndrome with M-anisosplenia in one patient. Clin Genet 22:143–147

    Google Scholar 

  • Moermann Ph, Verbeken E, Fryns JP, Goddeeris P, Lauweryns JM (1982b) The Meckel-syndrome. Pathological and cytogenetic observations in eight cases. Hum Genet 62:240–245

    Google Scholar 

  • Mohr OL (1941) Heredity and disease. Norton, New York

    Google Scholar 

  • Motegi T, Kusunoki M, Nishi T, Hamada T, Sato N, Imamura T, Mohri N (1979) Short-rib polydactyly syndrome, Majewski type, in two male siblings. Hum Genet 49:269–275

    Google Scholar 

  • Nevin NC, Thompson W, Davison G, Horner WT (1979) Prenatal diagnosis of the Meckel syndrome. Clin Genet 15:1–4

    Google Scholar 

  • Naffah J, Ghosn G, Gharios N (1972) A propos de trois nouveaux cas dans une meme fratrie du syndrome de Meckel ou dysencephalie splanchnokystique de Gruber. Arch Fr Pédiatr 29:1069–1081

    Google Scholar 

  • Nieberding W (1887) Cystöse Nierendegeneration des Foetus als Geburtshindernis. Münchener Med Wochenschr 34:633–634

    Google Scholar 

  • Opitz JM, Howe JJ (1969) The Meckel syndrome (Dysencephalia splanchnocystica, the Gruber syndrome). Birth Defects V (2): 167–179

    Google Scholar 

  • Parisio B (1951) Contributo alla conoscenza della “Sindrome Disencefalo-Splancnocistica”. Folia Hered Pathol 1:237–249

    Google Scholar 

  • Pohlmann F (1935) Über das Vorkommen hinterer Hirnbruchbildung mit vielcystischem Formfehler von Eingeweidedrüsen und mit Vielfingerigkeit. MD thesis, Göttingen

  • Pfeiffer RA, Majewski F, Mannkopf H (1972) Das Syndrom von Mohr und Claussen. Klin Pädiatr 184:224–229

    Google Scholar 

  • Roscher F (1933) Über die Häufigkeit, die Art und die pathogene Bedeutung von Mißbildungen der Niere und der Harnwege. Acta Chirurg Scand 70:493–540

    Google Scholar 

  • Rümler E (1934) Die polycystische Entwicklungsstörung im Pankreas, zugleich ein Beitrag zur Frage der Cystenleber und der Cystennieren. Virchows Arch Pathol Anat Physiol 292:151–165

    Google Scholar 

  • Schinzel A (1982) Acrocallosal syndrome. Am J Med Genet 12:201–203

    Google Scholar 

  • Schlenzka A (1867) Zwei Fälle von congenitalen Cystennieren bei Neugeborenen. MD thesis, Greifswald

  • Schupmann A (1842) Hydatiden beider Nieren und Uterus bicornis eines neugeborenen Kindes. Organ Gesamt Heilk (Bonn) 2:135–140

    Google Scholar 

  • Schurig V, Bowen P, Harley F, Schiff D (1980) The Meckel syndrome in the Hutterites. Am J Med Genet 5:373–381

    Google Scholar 

  • Seller MJ (1978) Meckel syndrome and the prenatal diagnosis of neural tube defects. J Med Genet 15:462–465

    Google Scholar 

  • Seller MJ (1981) Phenotypic variation in Meckel syndrome. Clin Genet 20:74–77

    Google Scholar 

  • Shapiro LJ, Kaback MM, Toomey KE, Sarti D, Luther P, Cousins L (1977) Prenatal diagnosis of the Meckel syndrome: Use of serial ultrasound and alpha-fetoprotein measurements. Birth Defects XIII (3):267–272

    Google Scholar 

  • Simopoulos AP, Brennan GG, Alwan A, Fidis N (1967) Polycystic kidneys, internal hydrocephalus and polydactylism in newborn siblings. Pediatrics 39:931–934

    Google Scholar 

  • Stockard CR (1920–21) Developmental rate and structural expression: An experimental study of twins, “double monsters” and single deformities, and the interaction among embryonic organs during their origin and development. Am J Anat 28:115–279

    Google Scholar 

  • Strassmann P (1894) Doppelter Klumpfuss, Paraphimose, Fehlen der Nieren. Z Geburtsh Gynäkol 28:181–183

    Google Scholar 

  • Teuscher M (1926) Über die kongenitale Cystenleber mit Cystennieren und Cystenpankreas. Beitr Pathol Anat 75:459–485

    Google Scholar 

  • Tucker CC, Finley SC, Tucker ES, Finley WH (1966) Oral-facial-digital syndrome, with polycystic kidneys and liver: Pathological and cytogenetic studies. J Med Genet 3:145–147

    Google Scholar 

  • Virchow R (1855) Ueber congenitale Nierenwassersucht. Verh Phys Med Ges Würzburg 5:447–462

    Google Scholar 

  • Voss A (1866) Zwei Fälle von Geburtsbehinderung durch Ausdehnung des Bauches der Frucht. Monatsschr Geburtskd Frauenkrankh 27:15–27

    Google Scholar 

  • Wackerle L (1926) Zur Frage der Cystenleber Virchows Arch Pathol Anat 262:508–530

    Google Scholar 

  • Walbaum R, Dehaene, Ph, Duthoit F (1967) Polydactylie familiale avec dysplasie neuro-cranienne. Ann Genet (Paris) 10:39–41

    Google Scholar 

  • Walther P, Lelièvre A (1923) Trois cas de lésions polykystiques rénales accompagnées de méningocéle dans trois accouchements consécutifs. Bull Soc Obstet Gynecol Paris, December 10th, pp 535–538

  • Wigand F (1889) Über congenitale Cystennieren. MD thesis, Marburg

  • Witzel O (1880) Hemicephalus mit großen Lebercysten, Cystennieren, und einer Reihe anderer Mißbildungen. Zentralbl Gynäkol 4:561–564

    Google Scholar 

  • Wollenberg E (1889) Ein Fall von Hydrencephalocele posterior mit Spina bifida und cystischer Degeneration beider Nieren. MD thesis, Königsberg

  • Zancla L (1937) Enorme fegato cistico in feto mostruoso causa di distocia del parto. Atti Soc Ital Ostet Ginecol 33:491–496

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Insitute of Human Genetics, University of Düsseldorf, 4000, Düsseldorf, Germany

    F. Majewski & T. Goecke

  2. Children's Hospital, University of Düsseldorf, 4000, Düsseldorf, Germany

    H. Kemperdick

  3. Institute of Pathology, University of Erlangen, 8520, Erlangen, Germany

    H. Stöß

Authors
  1. F. Majewski
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. H. Stöß
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. T. Goecke
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. H. Kemperdick
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Majewski, F., Stöß, H., Goecke, T. et al. Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?. Hum Genet 65, 125–133 (1983). https://doi.org/10.1007/BF00286648

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00286648

Keywords

Search

Navigation