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Syndrome of Osteopathia Striata, Macrocephaly, and Cranial Sclerosis

Syndrome of Osteopathia Striata, Macrocephaly, and Cranial Sclerosis Abstract • The combination of osteopathia striata, macrocephaly, and cranial sclerosis, variably associated with certain other congenital anomalies, constitutes a rare autosomal dominant malformation syndrome. A new case presented herein demonstrates the natural evolution of the syndrome in infancy and early childhood. Since the macrocephaly is likely to be the initial manifestation, the syndrome should be considered in the differential diagnosis of infants with unexplained macrocephaly. (AJDC 1984;138:821-823) References 1. Hurt RL: Osteopathia striata—Voorhoeve's disease: Report of a case presenting the features of osteopathia striata and osteopetrosis . J Bone Joint Surg Br 1953;35:89-96. 2. Jones MD, Mulcahy ND: Osteopathia striata, osteoporosis, and impaired hearing: A previously unreported cause for conductive hearing loss . Arch Otolaryngol 1968;87:116-118.Crossref 3. Franklyn PP, Wilkinson D: Two cases of osteopathia striata, deafness and cranial osteopetrosis . Ann Radiol 1978;21:91-93. 4. Schnyder PA: Osseous changes in osteopathia striata associated with cranial sclerosis: An autosomal dominant entity . Skeletal Radiol 1980;5:19-22.Crossref 5. Paling MR, Hyde I, Dennis NR: Osteopathia striata and thickening of the skull . Br J Radiol 1981;54:344-348.Crossref 6. Horan FT, Beighton PH: Osteopathia striata with cranial sclerosis: An autosomal dominant entity . Clin Genet 1978;13:201-206.Crossref 7. Winter RM, Crawfurd MD, Meire HB, et al: Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases . Clin Genet 1980;18:462-474.Crossref 8. Voorhoeve N: L'image radiologique non encore decrite d'une anomalie du squelette . Acta Radiol 1924;3:407-427.Crossref 9. Fairbank HAT: Osteopathia striata . J Bone Joint Surg Br 1950;32:117-125. 10. Rucker TN, Alfidi RJ: A rare familial systemic affection of the skeleton: Fairbank's disease . Radiology 1964;82:63-66. 11. Jones DN: Hyperostosis generalisata with striations of the bones: A further report in two related families . Clin Radiol 1979;30:87-94.Crossref 12. Whyte MF, Murphy WA, Fallon MD, et al: Mixed-sclerosing-bone-dystrophy: Report of a case and review of the literature . Skeletal Radiol 1981;6:95-102.Crossref 13. Whyte MP, Murphy WA, Siegel BA: 99mTcpyrophosphate bone imaging in osteopoikilosis, osteopathia striata, and melorheostosis . Radiology 1978;127:439-443. 14. Gorlin RJ, Spranger J, Koszalka MF: Genetic craniotubular bone dysplasias and hyperostoses: A critical analysis . Birth Defects 1969;5:79-95. 15. DeMeyer W: Megalencephaly in children: Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly . Neurology 1972;22:634-643.Crossref 16. Ash AJ, Myers GJ: Benign familial macrocephaly: Report of a family and review of the literature . Pediatrics 1976;57:535-539. 17. Day RE, Shutt WH: Normal children with large heads: Benign familial megalencephaly . Arch Dis Child 1979;54:512-517.Crossref 18. Weichert KA, Dine MS, Benton C, et al: Macrocranium and neurofibromatosis . Radiology 1973;107:163-166. 19. Sotos JF, Dodge PR, Muirhead D, et al: Cerebral gigantism in childhood: A syndrome of excessively rapid growth with acromegalic features and a nonprogressive neurologic disorder . N Engl J Med 1964;271:109-116.Crossref 20. Majewski F, Ranke M, Kemperdick H, et al: The Weaver syndrome: A rare type of primordial overgrowth . Eur J Pediatr 1981;137: 277-282.Crossref 21. Stephan MJ, Hall BD, Smith DW, et al: Macrocephaly in association with unusual cutaneous angiomatosis . J Pediatr 1975;87:353-359.Crossref 22. Schreier H, Rapin I, Davis J: Familial megalencephaly or hydrocephalus? Neurology 1974;24:232-236.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Syndrome of Osteopathia Striata, Macrocephaly, and Cranial Sclerosis

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Publisher
American Medical Association
Copyright
Copyright © 1984 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1984.02140470021007
Publisher site
See Article on Publisher Site

Abstract

Abstract • The combination of osteopathia striata, macrocephaly, and cranial sclerosis, variably associated with certain other congenital anomalies, constitutes a rare autosomal dominant malformation syndrome. A new case presented herein demonstrates the natural evolution of the syndrome in infancy and early childhood. Since the macrocephaly is likely to be the initial manifestation, the syndrome should be considered in the differential diagnosis of infants with unexplained macrocephaly. (AJDC 1984;138:821-823) References 1. Hurt RL: Osteopathia striata—Voorhoeve's disease: Report of a case presenting the features of osteopathia striata and osteopetrosis . J Bone Joint Surg Br 1953;35:89-96. 2. Jones MD, Mulcahy ND: Osteopathia striata, osteoporosis, and impaired hearing: A previously unreported cause for conductive hearing loss . Arch Otolaryngol 1968;87:116-118.Crossref 3. Franklyn PP, Wilkinson D: Two cases of osteopathia striata, deafness and cranial osteopetrosis . Ann Radiol 1978;21:91-93. 4. Schnyder PA: Osseous changes in osteopathia striata associated with cranial sclerosis: An autosomal dominant entity . Skeletal Radiol 1980;5:19-22.Crossref 5. Paling MR, Hyde I, Dennis NR: Osteopathia striata and thickening of the skull . Br J Radiol 1981;54:344-348.Crossref 6. Horan FT, Beighton PH: Osteopathia striata with cranial sclerosis: An autosomal dominant entity . Clin Genet 1978;13:201-206.Crossref 7. Winter RM, Crawfurd MD, Meire HB, et al: Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases . Clin Genet 1980;18:462-474.Crossref 8. Voorhoeve N: L'image radiologique non encore decrite d'une anomalie du squelette . Acta Radiol 1924;3:407-427.Crossref 9. Fairbank HAT: Osteopathia striata . J Bone Joint Surg Br 1950;32:117-125. 10. Rucker TN, Alfidi RJ: A rare familial systemic affection of the skeleton: Fairbank's disease . Radiology 1964;82:63-66. 11. Jones DN: Hyperostosis generalisata with striations of the bones: A further report in two related families . Clin Radiol 1979;30:87-94.Crossref 12. Whyte MF, Murphy WA, Fallon MD, et al: Mixed-sclerosing-bone-dystrophy: Report of a case and review of the literature . Skeletal Radiol 1981;6:95-102.Crossref 13. Whyte MP, Murphy WA, Siegel BA: 99mTcpyrophosphate bone imaging in osteopoikilosis, osteopathia striata, and melorheostosis . Radiology 1978;127:439-443. 14. Gorlin RJ, Spranger J, Koszalka MF: Genetic craniotubular bone dysplasias and hyperostoses: A critical analysis . Birth Defects 1969;5:79-95. 15. DeMeyer W: Megalencephaly in children: Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly . Neurology 1972;22:634-643.Crossref 16. Ash AJ, Myers GJ: Benign familial macrocephaly: Report of a family and review of the literature . Pediatrics 1976;57:535-539. 17. Day RE, Shutt WH: Normal children with large heads: Benign familial megalencephaly . Arch Dis Child 1979;54:512-517.Crossref 18. Weichert KA, Dine MS, Benton C, et al: Macrocranium and neurofibromatosis . Radiology 1973;107:163-166. 19. Sotos JF, Dodge PR, Muirhead D, et al: Cerebral gigantism in childhood: A syndrome of excessively rapid growth with acromegalic features and a nonprogressive neurologic disorder . N Engl J Med 1964;271:109-116.Crossref 20. Majewski F, Ranke M, Kemperdick H, et al: The Weaver syndrome: A rare type of primordial overgrowth . Eur J Pediatr 1981;137: 277-282.Crossref 21. Stephan MJ, Hall BD, Smith DW, et al: Macrocephaly in association with unusual cutaneous angiomatosis . J Pediatr 1975;87:353-359.Crossref 22. Schreier H, Rapin I, Davis J: Familial megalencephaly or hydrocephalus? Neurology 1974;24:232-236.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Sep 1, 1984

References

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