PortalPublikationenBrainstem disconnection: two additional patients and expansi...

Brainstem disconnection: two additional patients and expansion of the phenotype

Standard

Brainstem disconnection: two additional patients and expansion of the phenotype. / Poretti, Andrea; Denecke, Jonas; Miller, Douglas C; Schiffmann, Holger; Buhk, Jan Hendrik; Grange, Dorothy K; Doherty, Dan; Boltshauser, Eugen.

in: NEUROPEDIATRICS, Jahrgang 46, Nr. 2, 04.2015, S. 139-44.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Poretti, A, Denecke, J, Miller, DC, Schiffmann, H, Buhk, JH, Grange, DK, Doherty, D & Boltshauser, E 2015, 'Brainstem disconnection: two additional patients and expansion of the phenotype', NEUROPEDIATRICS, Jg. 46, Nr. 2, S. 139-44. https://doi.org/10.1055/s-0034-1544127

APA

Poretti, A., Denecke, J., Miller, D. C., Schiffmann, H., Buhk, J. H., Grange, D. K., Doherty, D., & Boltshauser, E. (2015). Brainstem disconnection: two additional patients and expansion of the phenotype. NEUROPEDIATRICS, 46(2), 139-44. https://doi.org/10.1055/s-0034-1544127

Vancouver

Poretti A, Denecke J, Miller DC, Schiffmann H, Buhk JH, Grange DK et al. Brainstem disconnection: two additional patients and expansion of the phenotype. NEUROPEDIATRICS. 2015 Apr;46(2):139-44. https://doi.org/10.1055/s-0034-1544127

Bibtex

@article{e0772aaa3a5043048b4e98452ee79080,
title = "Brainstem disconnection: two additional patients and expansion of the phenotype",
abstract = "Brainstem disconnection (BD) is a rare posterior fossa abnormality defined by the nearly complete absence of a brainstem segment with the rostral and caudal brainstem portions connected only by a thin cord of tissue. The outcome is poor and the majority of children die within the first 2 months of life without achieving developmental milestones. We report on the cases of two children with BD and a prolonged spontaneous survival. Neither patient required intubation or mechanical ventilation and each survived longer than 2 months (one child died at the age of 8 months, the other is alive at the age of 4.5 years). In addition, patient 1 is the only child with BD reported so far who achieved some developmental milestones. Although the long-term neurodevelopmental outcome of BD remains unfavorable, the expansion of the phenotypic spectrum may be important in terms of counseling.",
author = "Andrea Poretti and Jonas Denecke and Miller, {Douglas C} and Holger Schiffmann and Buhk, {Jan Hendrik} and Grange, {Dorothy K} and Dan Doherty and Eugen Boltshauser",
note = "Georg Thieme Verlag KG Stuttgart · New York.",
year = "2015",
month = apr,
doi = "10.1055/s-0034-1544127",
language = "English",
volume = "46",
pages = "139--44",
journal = "NEUROPEDIATRICS",
issn = "0174-304X",
publisher = "Hippokrates Verlag GmbH",
number = "2",

}

RIS

TY - JOUR

T1 - Brainstem disconnection: two additional patients and expansion of the phenotype

AU - Poretti, Andrea

AU - Denecke, Jonas

AU - Miller, Douglas C

AU - Schiffmann, Holger

AU - Buhk, Jan Hendrik

AU - Grange, Dorothy K

AU - Doherty, Dan

AU - Boltshauser, Eugen

N1 - Georg Thieme Verlag KG Stuttgart · New York.

PY - 2015/4

Y1 - 2015/4

N2 - Brainstem disconnection (BD) is a rare posterior fossa abnormality defined by the nearly complete absence of a brainstem segment with the rostral and caudal brainstem portions connected only by a thin cord of tissue. The outcome is poor and the majority of children die within the first 2 months of life without achieving developmental milestones. We report on the cases of two children with BD and a prolonged spontaneous survival. Neither patient required intubation or mechanical ventilation and each survived longer than 2 months (one child died at the age of 8 months, the other is alive at the age of 4.5 years). In addition, patient 1 is the only child with BD reported so far who achieved some developmental milestones. Although the long-term neurodevelopmental outcome of BD remains unfavorable, the expansion of the phenotypic spectrum may be important in terms of counseling.

AB - Brainstem disconnection (BD) is a rare posterior fossa abnormality defined by the nearly complete absence of a brainstem segment with the rostral and caudal brainstem portions connected only by a thin cord of tissue. The outcome is poor and the majority of children die within the first 2 months of life without achieving developmental milestones. We report on the cases of two children with BD and a prolonged spontaneous survival. Neither patient required intubation or mechanical ventilation and each survived longer than 2 months (one child died at the age of 8 months, the other is alive at the age of 4.5 years). In addition, patient 1 is the only child with BD reported so far who achieved some developmental milestones. Although the long-term neurodevelopmental outcome of BD remains unfavorable, the expansion of the phenotypic spectrum may be important in terms of counseling.

U2 - 10.1055/s-0034-1544127

DO - 10.1055/s-0034-1544127

M3 - SCORING: Journal article

C2 - 25671339

VL - 46

SP - 139

EP - 144

JO - NEUROPEDIATRICS

JF - NEUROPEDIATRICS

SN - 0174-304X

IS - 2

ER -