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Literature DB >> 14564517

Malignant hypertension and cerebral haemorrhage in Seckel syndrome.

Rossella Di Bartolomeo¹, Giancarlo Polidori, Marco Piastra, Luigi Viola, Guiseppe Zampino, Antonio Chiaretti.

Abstract

UNLABELLED: Seckel syndrome is an autosomal recessive condition with severe short stature and facial and neurological anomalies. Intracranial haemorrhage, due to rupture of a cerebral aneurysm, is a very rare complication of this syndrome. Malignant hypertension may play an important role in the aetiology of the aneurysm and early detection is essential in order to prevent organ damage.
CONCLUSION: we report a new case of Seckel syndrome associated with malignant hypertension and cerebral haemorrhage.

Entities: Disease

Mesh：

Year: 2003 PMID： 14564517 DOI： 10.1007/s00431-003-1310-z

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

6 in total

1. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.

Authors: A D Børglum; T Balslev; A Haagerup; N Birkebaek; H Binderup; T A Kruse; J M Hertz
Journal: Eur J Hum Genet Date: 2001-10 Impact factor: 4.246

2. Clinical and genetic heterogeneity of Seckel syndrome.

Authors: L Faivre; M Le Merrer; S Lyonnet; H Plauchu; N Dagoneau; A B Campos-Xavier; J Attia-Sobol; A Verloes; A Munnich; V Cormier-Daire
Journal: Am J Med Genet Date: 2002-11-01

3. Severe hypertensive sequelae in a child with Seckel syndrome (bird-like dwarfism).

Authors: J M Sorof; C Dow-Smith; P J Moore
Journal: Pediatr Nephrol Date: 1999-05 Impact factor: 3.714

4. Update on the 1987 Task Force Report on High Blood Pressure in Children and Adolescents: a working group report from the National High Blood Pressure Education Program. National High Blood Pressure Education Program Working Group on Hypertension Control in Children and Adolescents.

Authors:
Journal: Pediatrics Date: 1996-10 Impact factor: 7.124

5. Multiple intracranial aneurysms in a patient with Seckel syndrome.

Authors: V A D'Angelo; A M Ceddia; L Zelante; F P Florio
Journal: Childs Nerv Syst Date: 1998 Jan-Feb Impact factor: 1.475

6. Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

Authors: J Goodship; H Gill; J Carter; A Jackson; M Splitt; M Wright
Journal: Am J Hum Genet Date: 2000-07-11 Impact factor: 11.025

6 in total

9 in total

1. P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure.

Authors: Akio Koizumi; Hatasu Kobayashi; Wanyang Liu; Yukiko Fujii; S T M L D Senevirathna; Shanika Nanayakkara; Hiroko Okuda; Toshiaki Hitomi; Kouji H Harada; Katsunobu Takenaka; Takao Watanabe; Shinichiro Shimbo
Journal: Environ Health Prev Med Date: 2012-08-10 Impact factor: 3.674

2. Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.

Authors: Angela L Duker; Dagmar Kinderman; Christy Jordan; Tim Niiler; Carissa M Baker-Smith; Louise Thompson; David A Parry; Ricki S Carroll; Michael B Bober
Journal: Orphanet J Rare Dis Date: 2021-05-20 Impact factor: 4.123

3. Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence?

Authors: Ralph Rahme; Louis Crevier; Josée Dubois; Claude Mercier
Journal: Childs Nerv Syst Date: 2010-07 Impact factor: 1.475

4. Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.

Authors: Eva Müller; Desiree Dunstheimer; Jürgen Klammt; Daniela Friebe; Wieland Kiess; Jürgen Kratzsch; Tassilo Kruis; Sandy Laue; Roland Pfäffle; Tillmann Wallborn; Peter H Heidemann
Journal: PLoS One Date: 2012-05-31 Impact factor: 3.240

Malignant hypertension and cerebral haemorrhage in Seckel syndrome.

1. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.

2. Clinical and genetic heterogeneity of Seckel syndrome.

3. Severe hypertensive sequelae in a child with Seckel syndrome (bird-like dwarfism).

4. Update on the 1987 Task Force Report on High Blood Pressure in Children and Adolescents: a working group report from the National High Blood Pressure Education Program. National High Blood Pressure Education Program Working Group on Hypertension Control in Children and Adolescents.

5. Multiple intracranial aneurysms in a patient with Seckel syndrome.

6. Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

1. P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure.

2. Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.

3. Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence?

4. Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.

5. Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature.

6. Endovascular Treatment of a Patient with Moyamoya Disease and Seckel Syndrome: A Case Report.

7. A Child with Seckel Syndrome and Arterial Stenosis: Case Report and Literature Review.

8. A rare case of malignant hypertension with splenic rupture and thrombotic microangiopathy: A case report.

9. Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review.