Abstract
Little is known about the neuropathology of the median facial cleft syndrome, which presents as a combination of a wide range of teratological manifestations. We report a unique type of cerebral malformation combined with the median facial cleft syndrome in a 7-day-old female infant with malformations of toes and fingers, hypertelorism and a median cleft nose, as well as a trontally protruding, dorsomedian hornlike cele. At autopsy, the cranium presented facial clefts and bony defects, resulting in partitioning of the anterior cranial fossa into three compartments. The brain had malformative features of lobar holoprosencephaly combined with tripartition of frontal lobes, including an encephalomeningocystocele originating from a right accessory frontal lobe.
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Barr M, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, Wilson GA (1983) Holoprosencephaly in infants of diabetic mothers. J Pediatr 102:565–568
Cohen MM Jr (1989) Perspectives on holoprosencephaly. Part I. Epidemiology, genetics, and syndromology of holoprosencephaly. Teratology 40:211–235
Cohen MM Jr, Sulik KK (1992) Perspectives on holoprosencephaly. Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies. J Craniofac Genet Dev Biol 12:196–244
DeMyer W (1967) The median cleft face syndrome: differential diagnosis of cranium bifidum occultum, hypertelorism, and median cleft nose, lip and palate. Neurology 17:961–971
DeMyer W, Zeman W (1963) Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confin Neurol 23:1–36
DeMyer W, Zeman W, Palmer CG (1963) Familial alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate. Report of a patient with 46 chromosomes. Neurology 13:913
DeMyer W, Zeman W, Palmer CG (1964) The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 34:256–263
Gross H, Jellinger K (1969) Morphologische Aspekte zerebraler Mißbildungen. Häufigkeit und diagnostische Probleme im Rahmen kindlicher Hirnschäden. Wien Z Nervenheilk 27:9–37
Habedank M, Thomas E (1970) Clinical and neuropathological investigations of four cases of holoprosencephaly with arhinencephaly. Neuropaediatrie 2:144
Ingalls TH, Murakami U (1962) Cyclopia, ectromelia and other monstrosities in zebra fish. Aroh Environ Health 5:114–121
Jellinger K, Gross H (1973) Holoprosencephalie und Arhinencephalie. In: Jellinger K (ed) Current topics in neuropathology, vol 1. Facultas, Wien, pp 62–71
Jellinger K, Gross H, Kaltenbäck E, Grisold W (1981) Holoprosencephaly and agenesis of the corpus callosum: frequency of associated malformations. Acta Neuropathol (Berl) 55:1–10
Lewis WH (1909) The experimental production of cyclopia in the fish embryo (fundulus heteroclitus). Anat Rec 3:175–181
Lichtenstein BW, Maloney JE (1954) Malformation of the forebrain. J neuropathol Exp Neurol 13:117–128
Marubayashi T, Matsukado Y (1978) Intracranial extracerebral brain heterotopia. Case report. J Neurosurg 48:470–474
Oldfield M (1937) An encephalocele associated with hypertelorism and cleft palate. Br J Surg 25:757
Roach E, DeMyer W, Palmer K, Connelly M, Merritt A (1975) Holoprosencephaly: birth data, genetic and demographic analysis of 30 families. Birth Defects 11:294–313
Stockard CR (1909) The artificial production of one-eyed monsters and other defects, which occur in nature, by use of chemicals. Anat Rec 3:167–173
Wakai S, Nakamura K, Arai T, Masakatsu N (1983) Extracerebral neural tissue mass in the middle cranial fossa extending into the oropharynx in a neonate. J Neurosurg 59:692–696
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Mazal, P.R., Schuhfried, G. & Budka, H. Trilobar holoprosencephaly (“triprosencephaly”): a unique type of cerebral malformation. Acta Neuropathol 89, 567–570 (1995). https://doi.org/10.1007/BF00571513
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DOI: https://doi.org/10.1007/BF00571513