Aicardi syndrome - skeletal findings

2021 ◽  
Author(s):  
Leonardo Lustosa
Keyword(s):  
Aicardi Syndrome ◽  
Skeletal Findings

A severe case of Aicardi syndrome with triple X

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
V Busch ◽  
K Rüdisser ◽  
A Hack ◽  
B Pascher ◽  
G Uyanik ◽  
...  
Keyword(s):  
Severe Case ◽  
Aicardi Syndrome

scholarly journals Hepatic Adenomatosis in Aicardi Syndrome: a Clinical Report and Review of the Literature

2021 ◽  
Author(s):  
Enrico Boninsegna ◽  
Emilio Simonini ◽  
Stefano Crosara ◽  
Antonia Semeraro ◽  
Stefano Colopi
Keyword(s):  
Clinical Report ◽  
Review Of The Literature ◽  
Aicardi Syndrome ◽  
Hepatic Adenomatosis

scholarly journals Unusual phenotypes in patients with a pathogenic germline variant in DICER1

2021 ◽  
Author(s):  
Kateryna Venger ◽  
Miriam Elbracht ◽  
Julia Carlens ◽  
Peter Deutz ◽  
Felix Zeppernick ◽  
...  
Keyword(s):  
Wilms Tumor ◽  
Pleuropulmonary Blastoma ◽  
Global Developmental Delay ◽  
Facial Dysmorphism ◽  
Compound Heterozygous ◽  
Incomplete Penetrance ◽  
Developmental Abnormalities ◽  
Lung Cysts ◽  
Developmental Features ◽  
Skeletal Findings

AbstractPathogenic germline DICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic missense DICER1 variants in the RNase IIIb domain are linked to cause GLOW (global developmental delay, lung cysts, overgrowth, and Wilms’ tumor) syndrome. Here, we report four families with germline DICER1 pathogenic variants in which one member in each family had a more complex phenotype, including skeletal findings, facial dysmorphism and developmental abnormalities. The developmental features occur with a variable expressivity and incomplete penetrance as also described for the neoplastic and dysplastic lesions associated with DICER1 variants. Whole exome sequencing (WES) was performed on all four cases and revealed no further pathogenic or likely pathogenic dominant, homozygous or compound heterozygous variants in three of them. Notably, a frameshift variant in ARID1B was detected in one patient explaining part of her phenotype. This series of patients shows that pathogenic DICER1 variants may be associated with a broader phenotypic spectrum than initially assumed, including predisposition to different tumours, skeletal findings, dysmorphism and developmental abnormalities, but genetic work up in syndromic patients should be comprehensive in order not to miss additional underlying /modifying causes.

scholarly journals Aicardi syndrome--the elusive mild case.

1994 ◽  
Vol 78 (6) ◽  
pp. 494-496 ◽  
Author(s):  
A V Menezes ◽  
R W Enzenauer ◽  
J R Buncic
Keyword(s):  
Mild Case ◽  
Aicardi Syndrome

Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG

2004 ◽  
Vol 13 (4) ◽  
pp. 257-260 ◽  
Author(s):  
Arpad Matlary ◽  
Trine Prescott ◽  
Bj??rn Tvedt ◽  
Knut Lindberg ◽  
Andres Server ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Mild Developmental Delay ◽  
Aicardi Syndrome

scholarly journals Presurgical treatment of cleft lip and palate in Aicardi syndrome: A case report

2008 ◽  
Vol 18 (2) ◽  
pp. 204-209
Author(s):  
Tsutomu Iwamoto ◽  
Satoshi Fukumoto ◽  
Aya Yamada ◽  
Makiko Arakaki ◽  
Kazuaki Nonaka
Keyword(s):  
Case Report ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Aicardi Syndrome

Aicardi Syndrome

2003 ◽  
Vol 60 (10) ◽  
pp. 1471 ◽  
Author(s):  
Tena Rosser
Keyword(s):  
Aicardi Syndrome

Persistent Hyperplastic Primary Vitreous in Association With Aicardi Syndrome

1995 ◽  
Vol 32 (1) ◽  
pp. 52-54
Author(s):  
David J Weissgold ◽  
Albert M Maguire ◽  
Neil S Kalin ◽  
Richard W Hertle
Keyword(s):  
Persistent Hyperplastic Primary Vitreous ◽  
Aicardi Syndrome

Aicardi Syndrome in One Dizygotic Twin

PEDIATRICS ◽  
1985 ◽  
Vol 76 (3) ◽  
pp. 450-453
Author(s):  
William H. Constad ◽  
Rudolph S. Wagner ◽  
Anthony R. Caputo
Keyword(s):  
Corpus Callosum ◽  
Strong Evidence ◽  
Infantile Spasms ◽  
Unaffected Sibling ◽  
Early Age ◽  
Mutational Event ◽  
Dizygotic Twin ◽  
First Case ◽  
Vertebral Anomalies ◽  
Aicardi Syndrome

The Aicardi syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects. The etiology is, as yet, unknown. The most likely cause, however, is an χ-linked mutational event that is lethal in males. The first case of the Aicardi syndrome known to occur in one twin is reported. The patient was female and her unaffected sibling was male. This provides strong evidence to support the theory of an χ-linked mutational event as the cause of this condition. The typical chorioretinal defects, often difficult to document because these children die at an early age, are clearly illustrated in this report.

Normal Skeletal Findings Not to Be Confused with Abuse

2016 ◽  
pp. 9-19 ◽  
Author(s):  
Alan E. Oestreich ◽  
Marguerite M. Caré
Keyword(s):  
Skeletal Findings
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