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J Med Genet. Dec 1989; 26(12): 782–784.
PMCID: PMC1015763

Porencephalic cyst in pycnodysostosis.

Abstract

We describe a case of pycnodysostosis with porencephaly and suggest an explanation for the porencephaly by a mechanism of imbalance between brain growth and its vascular supply and a normal but unopposed cerebrospinal fluid pressure.

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Selected References

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  • MAROTEAUX P, LAMY M. [Pyknodysostosis]. Presse Med. 1962 Apr 25;70:999–1002. [PubMed]
  • MAROTEAUX P, LAMY M. [2 cases of a condensing osseous disease: pynodysostosis]. Arch Fr Pediatr. 1962 Feb;19:267–274. [PubMed]
  • MAROTEAUX P, LAMY M. THE MALADY OF TOULOUSE-LAUTREC. JAMA. 1965 Mar 1;191:715–717. [PubMed]
  • Taylor MM, Moore TM, Harvey JP., Jr Pycnodysostosis. A case report. J Bone Joint Surg Am. 1978 Dec;60(8):1128–1130. [PubMed]
  • Meredith SC, Simon MA, Laros GS, Jackson MA. Pycnodysostosis. A clinical, pathological, and ultramicroscopic study of a case. J Bone Joint Surg Am. 1978 Dec;60(8):1122–1127. [PubMed]
  • de Almeida LM. Contribution à l'étude génétique de la pycnodysostose. Ann Genet. 1972 Jun;15(2):99–101. [PubMed]
  • Sedano HD, Gorlin RJ, Anderson VE. Pycnodysostosis. Clinical and genetic considerations. Am J Dis Child. 1968 Jul;116(1):70–77. [PubMed]
  • Berg RA, Aleck KA, Kaplan AM. Familial porencephaly. Arch Neurol. 1983 Sep;40(9):567–569. [PubMed]
  • Stewart RM, Williams RS, Lukl P, Schoenen J. Ventral porencephaly: a cerebral defect associated with multiple congenital anomalies. Acta Neuropathol. 1978 Jun 30;42(3):231–235. [PubMed]

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