European Journal of Pediatrics

, Volume 146, Issue 3, pp 301–302 | Cite as

Median cleft face syndrome in association with hydrocephalus, agenesis of the corpus callosum, holoprosencephaly and choanal atresia

  • T. Bömelburg
  • W. Lenz
  • T. Eusterbrock
Case Reports

Abstract

A premature female infant had the characteristic features of the median cleft face syndrome in association with holoprosencephaly, agenesis of the corpus callosum, hydrocephalus and choanal atresia. Whereas the nervous system is rarely affected in patients with the median cleft face syndrome, severe mental retardation has been reported in three previously published cases and is suggested in our own patient. All had an associated agenesis of the corpus callosum.

Key words

Median cleft face syndrome Frontonasal dysplasia Holoprosencephaly Agenesis of the corpus callosum 

Abbreviations

MCF-S

median cleft face syndrome

FND

frontonasal dysplasia

CSF

cerebrospinal fluid

ICD

inner canthal distance

OCD

outer canthal distance

CI

canthal index

IPD

inter-pupillary distance

References

  1. 1.
    Brackertz M, Schindler D, Grimm T, Zahn V (1985) Holoprosenzephalie — Klinisches Erscheinungsbild und genetische Beratung in sechs Fällen. Klin Pädiatr 197:50–57Google Scholar
  2. 2.
    DeMyer W (1967) The median cleft face syndrome: differential diagnosis of cranium bifidum occultum, hypertelorism, and median cleft nose, lip, and palate. Neurology (Minneap) 17:961–971Google Scholar
  3. 3.
    DeMyer W, Zeman W, Palmer CG (1964) The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 34:256–263Google Scholar
  4. 4.
    François J, Eggermont E, Evens L, Logghe N, De Bock F (1973) Agenesis of the corpus callosum in the median facial cleft syndrome and associated ocular malformations. Am J Ophthalmol 76:241–245Google Scholar
  5. 5.
    Gollop TR, Kiola MM, Martins RM, Lucchesi EA, Anarenga E (1984) Frontofacionasal dysplasia: evidence for autosomal recessive inheritance. Am J Med Genet 19:301–305Google Scholar
  6. 6.
    Gorlin RJ, Pindborg JJ, Cohen MM (1976) Syndromes of the head and neck. McGraw-Hill, New York Toronto London, pp 319–323Google Scholar
  7. 7.
    Gross H (1956) Der Hypertelorismus. Ophthalmologica 131:137–156Google Scholar
  8. 8.
    Pascual-Castroviejo I, Pascual-Pascual SI, Pérez-Higueras A (1986) Fronto-nasal dysplasia and lipoma of the corpus callosum. Eur J Pediatr 144:66–71Google Scholar
  9. 9.
    Sedano HO, Cohen MM, Jirasek JE, Gorlin RJ (1970) Frontonasal dysplasia. J Pediatr 76:906–913Google Scholar
  10. 10.
    Smith DW (1982) Recognizable patterns of human malformation. Major problems in clinical pediatrics, vol 7. Saunders, Philadelphia London, Toronto, pp 607–609Google Scholar
  11. 11.
    Stupka W (1938) Die Mißbildungen und Anomalien der Nase und des Nasenrachenraumes. Springer, Berlin, S 109–117Google Scholar
  12. 12.
    Warkany J, Bofinger MK, Benton C (1973) Median facial cleft syndrome in half-sisters. Dilemmas in genetic counseling. Teratology 8:273–286Google Scholar

Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • T. Bömelburg
    • 1
  • W. Lenz
    • 2
  • T. Eusterbrock
    • 1
  1. 1.Department of PediatricsUniversity of MünsterMünsterFederal Republic of Germany
  2. 2.Department of Human GeneticsUniversity of MünsterMünsterFederal Republic of Germany

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