Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and IntegumentCitation formats

  • Authors:
  • Yanick Crow
  • Y. J. Crow
  • J. McMenamin
  • C. A. Haenggeli
  • D. M. Hadley
  • And 6 others
  • External authors:
  • S. Tirupathi
  • E. P. Treacy
  • S. M. Zuberi
  • B. H. Browne
  • J. L. Tolmie
  • J. B P Stephenson

Standard

Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument. / Crow, Yanick; Crow, Y. J.; McMenamin, J.; Haenggeli, C. A.; Hadley, D. M.; Tirupathi, S.; Treacy, E. P.; Zuberi, S. M.; Browne, B. H.; Tolmie, J. L.; Stephenson, J. B P.

In: Neuropediatrics, Vol. 35, No. 1, 02.2004, p. 10-19.

Research output: Contribution to journalArticlepeer-review

Harvard

Crow, Y, Crow, YJ, McMenamin, J, Haenggeli, CA, Hadley, DM, Tirupathi, S, Treacy, EP, Zuberi, SM, Browne, BH, Tolmie, JL & Stephenson, JBP 2004, 'Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument', Neuropediatrics, vol. 35, no. 1, pp. 10-19. https://doi.org/10.1055/s-2003-43552

APA

Crow, Y., Crow, Y. J., McMenamin, J., Haenggeli, C. A., Hadley, D. M., Tirupathi, S., Treacy, E. P., Zuberi, S. M., Browne, B. H., Tolmie, J. L., & Stephenson, J. B. P. (2004). Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument. Neuropediatrics, 35(1), 10-19. https://doi.org/10.1055/s-2003-43552

Vancouver

Author

Crow, Yanick ; Crow, Y. J. ; McMenamin, J. ; Haenggeli, C. A. ; Hadley, D. M. ; Tirupathi, S. ; Treacy, E. P. ; Zuberi, S. M. ; Browne, B. H. ; Tolmie, J. L. ; Stephenson, J. B P. / Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument. In: Neuropediatrics. 2004 ; Vol. 35, No. 1. pp. 10-19.

Bibtex

@article{5e7253974d3d429a802fdbf7f5e61501,
title = "Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument",
abstract = "In 1988 we reported two sisters with bilateral Coats' disease, sparse hair, dystrophic nails, and primeval splashes of intracranial calcification. We now provide an update on this family documenting the occurrence of skeletal defects comprising abnormal bone marrow, osteopenia, and sclerosis with a tendency to fractures, a mixed cerebellar and extrapyramidal movement disorder, infrequent epileptic seizures, leukodystrophic changes, and postnatal growth failure. Additionally, we present two previously unreported individuals from Ireland and Switzerland with the identical disorder which we designate Coats' plus. Since our original publication a number of other authors have described, frequently as a {"}new{"} syndrome, cases with a variable combination of the same features observed in our patients. We review this literature and suggest that the phenotypic overlap with dyskeratosis congenita may provide a clue to the molecular aetiology of this multisystem disorder.",
keywords = "Bone marrow, Coats' disease, Dyskeratosis congenita, Intracranial calcification, Leukoencephalopathy",
author = "Yanick Crow and Crow, {Y. J.} and J. McMenamin and Haenggeli, {C. A.} and Hadley, {D. M.} and S. Tirupathi and Treacy, {E. P.} and Zuberi, {S. M.} and Browne, {B. H.} and Tolmie, {J. L.} and Stephenson, {J. B P}",
year = "2004",
month = feb,
doi = "10.1055/s-2003-43552",
language = "English",
volume = "35",
pages = "10--19",
journal = "Neuropediatrics",
issn = "1439-1899",
publisher = "Georg Thieme Verlag",
number = "1",

}

RIS

TY - JOUR

T1 - Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument

AU - Crow, Yanick

AU - Crow, Y. J.

AU - McMenamin, J.

AU - Haenggeli, C. A.

AU - Hadley, D. M.

AU - Tirupathi, S.

AU - Treacy, E. P.

AU - Zuberi, S. M.

AU - Browne, B. H.

AU - Tolmie, J. L.

AU - Stephenson, J. B P

PY - 2004/2

Y1 - 2004/2

N2 - In 1988 we reported two sisters with bilateral Coats' disease, sparse hair, dystrophic nails, and primeval splashes of intracranial calcification. We now provide an update on this family documenting the occurrence of skeletal defects comprising abnormal bone marrow, osteopenia, and sclerosis with a tendency to fractures, a mixed cerebellar and extrapyramidal movement disorder, infrequent epileptic seizures, leukodystrophic changes, and postnatal growth failure. Additionally, we present two previously unreported individuals from Ireland and Switzerland with the identical disorder which we designate Coats' plus. Since our original publication a number of other authors have described, frequently as a "new" syndrome, cases with a variable combination of the same features observed in our patients. We review this literature and suggest that the phenotypic overlap with dyskeratosis congenita may provide a clue to the molecular aetiology of this multisystem disorder.

AB - In 1988 we reported two sisters with bilateral Coats' disease, sparse hair, dystrophic nails, and primeval splashes of intracranial calcification. We now provide an update on this family documenting the occurrence of skeletal defects comprising abnormal bone marrow, osteopenia, and sclerosis with a tendency to fractures, a mixed cerebellar and extrapyramidal movement disorder, infrequent epileptic seizures, leukodystrophic changes, and postnatal growth failure. Additionally, we present two previously unreported individuals from Ireland and Switzerland with the identical disorder which we designate Coats' plus. Since our original publication a number of other authors have described, frequently as a "new" syndrome, cases with a variable combination of the same features observed in our patients. We review this literature and suggest that the phenotypic overlap with dyskeratosis congenita may provide a clue to the molecular aetiology of this multisystem disorder.

KW - Bone marrow

KW - Coats' disease

KW - Dyskeratosis congenita

KW - Intracranial calcification

KW - Leukoencephalopathy

U2 - 10.1055/s-2003-43552

DO - 10.1055/s-2003-43552

M3 - Article

VL - 35

SP - 10

EP - 19

JO - Neuropediatrics

JF - Neuropediatrics

SN - 1439-1899

IS - 1

ER -