Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology

2014 ◽  
Vol 35 (2) ◽  
pp. 200-202 ◽  
Author(s):  
Chloé Quélin ◽  
Philippe Loget ◽  
Dominique D'Hervé ◽  
Mélanie Fradin ◽  
Joëlle Milon ◽  
...  
Keyword(s):  
Fetal Malformation ◽  
Malformation Syndrome ◽  
Osteopathia Striata ◽  
Cranial Sclerosis

Cranial Sclerosis with Striated Bone Disease (Osteopathia Striata)

1986 ◽  
Vol 198 (05) ◽  
pp. 418-424 ◽  
Author(s):  
H. Piechowiak ◽  
F. Goebel ◽  
U. Hirche ◽  
R. Tyrell
Keyword(s):  
Bone Disease ◽  
Osteopathia Striata ◽  
Cranial Sclerosis

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2

2017 ◽  
Vol 26 (4) ◽  
pp. 231-234
Author(s):  
Marie-Laure Vuillaume ◽  
Anna-Gaelle Valard ◽  
Nada Houcinat ◽  
Julie Bouron ◽  
Cécile Boucher ◽  
...  
Keyword(s):  
De Novo ◽  
Interstitial Deletion ◽  
Osteopathia Striata ◽  
Cranial Sclerosis

scholarly journals Prenatal Diagnosis of Osteopathia Striata with Cranial Sclerosis in a Male Fetus with a ~330kb Deletion of Xq11.1 Involving the WTX Gene

2013 ◽  
Vol 1 (1) ◽  
pp. 33-36 ◽  
Author(s):  
Patrick L. Wilson ◽  
Ashley Davis ◽  
Jean Ricci Goodman ◽  
Lauren Notley ◽  
Shibo Li ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Male Fetus ◽  
Osteopathia Striata ◽  
Cranial Sclerosis

Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1

2020 ◽  
Author(s):  
José María García-Aznar ◽  
Noelia Ramírez ◽  
David De Uña ◽  
Elisa Santiago ◽  
Lorenzo Monserrat
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Target Genes ◽  
Correct Diagnosis ◽  
Sotos Syndrome ◽  
Pathogenic Variants ◽  
Osteopathia Striata ◽  
Whole Exome ◽  
Cranial Sclerosis ◽  
Extended Analysis

AbstractThe diagnosis of rare diseases with multisystem manifestations can constitute a difficult process that delays the determination of the underlying cause. Whole exome sequencing (WES) provides a suitable option to examine multiple target genes associated with several disorders that display common features. In this study, we report the case of a female patient suspected of having Sotos syndrome. Screening for the initially selected genes, considering Sotos syndrome and Sotos-like disorders, did not identify any pathogenic variants that could explain the phenotype. The extended analysis, which considered all genes in the exome associated with features consistent with those shown by the studied patient, revealed a novel frameshift variant in the AMER1 gene, responsible for osteopathia striata with cranial sclerosis. WES analysis and an updated revision of previously reported disease-causing mutations, proved useful to reach an accurate diagnosis and guide further examination to identify critical abnormalities.

Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2

2012 ◽  
Vol 158A (11) ◽  
pp. 2946-2952 ◽  
Author(s):  
Sébastien Chénier ◽  
Abdul Noor ◽  
Lucie Dupuis ◽  
Dimitri J Stavropoulos ◽  
Roberto Mendoza-Londono
Keyword(s):  
Developmental Delay ◽  
Chromosome Region ◽  
Osteopathia Striata ◽  
Cranial Sclerosis

scholarly journals 73: Importance of placental testing in congenital zika virus (zikv) infection and fetal malformation syndrome

2018 ◽  
Vol 218 (1) ◽  
pp. S54-S55 ◽  
Author(s):  
Michelle Turley ◽  
Gregory Valentine ◽  
Maxim Seferovic ◽  
Martha Rac ◽  
Carey Eppes ◽  
...  
Keyword(s):  
Zika Virus ◽  
Fetal Malformation ◽  
Zikv Infection ◽  
Malformation Syndrome

Identification of two novel WTX mutations in osteopathia striata with cranial sclerosis patients

Bone ◽  
2010 ◽  
Vol 47 ◽  
pp. S51
Author(s):  
B. Perdu⁎ ◽  
P. Lakeman ◽  
A. Lachmeijer ◽  
R. Koenig ◽  
W. Van Hul
Keyword(s):  
Osteopathia Striata ◽  
Cranial Sclerosis

Osteopathia striata–cranial sclerosis: otorhinolaryngologic clinical presentation and radiologic findings

2007 ◽  
Vol 28 (1) ◽  
pp. 59-63 ◽  
Author(s):  
Giuseppe Magliulo ◽  
Donato Parrotto ◽  
Anna Maria Zicari ◽  
Daniela Zappala ◽  
Luigi Lo Mele ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Radiologic Findings ◽  
Osteopathia Striata ◽  
Cranial Sclerosis
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