A new de novo deletion 4q13.2q13.3 in a patient with mental retardation, growth retardation and various facial and skeletal dysmorphic features

2012 ◽  
Vol 43 (02) ◽  
Author(s):  
N Schmitz ◽  
I Rost ◽  
R König ◽  
M Kieslich
Keyword(s):  
Mental Retardation ◽  
Growth Retardation ◽  
De Novo ◽  
Dysmorphic Features

De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features

2011 ◽  
Vol 59 (6) ◽  
pp. 309-313
Author(s):  
A. Debost-Legrand ◽  
Y. Capri ◽  
L. Gouas ◽  
C. Pebrel-Richard ◽  
L. Veronese ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Array Cgh ◽  
De Novo ◽  
Unbalanced Translocation ◽  
Dysmorphic Features

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features

2009 ◽  
Vol 52 (4) ◽  
pp. 211-217 ◽  
Author(s):  
Marie-Reine Haddad ◽  
Cécile Mignon-Ravix ◽  
Pierre Cacciagli ◽  
André Mégarbané ◽  
Laurent Villard
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Balanced Translocation ◽  
Moderate Mental Retardation ◽  
Dysmorphic Features

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features

2011 ◽  
Vol 155 (7) ◽  
pp. 1706-1711 ◽  
Author(s):  
Gaetan Lesca ◽  
Marianne Till ◽  
Audrey Labalme ◽  
Dominique Vallee ◽  
Catherine Hugonenq ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Dysmorphic Features

A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation

2009 ◽  
Vol 52 (6) ◽  
pp. 443-445 ◽  
Author(s):  
Sujana Reddy ◽  
Natalia Dolzhanskaya ◽  
Jacquelyn Krogh ◽  
Milen Velinov
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Dysmorphic Features

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features

2010 ◽  
Vol 78 (2) ◽  
pp. 175-180 ◽  
Author(s):  
P Makrythanasis ◽  
I Moix ◽  
S Gimelli ◽  
J Fluss ◽  
K Aliferis ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Dysmorphic Features

scholarly journals Airway Challenges in Sanjad-Sakati Syndrome (SSS): A Case Report and Review of Literature

2021 ◽  
pp. 1-3
Author(s):  
Mohamed A. Khalil ◽  
Mohamed A. Khalil ◽  
Alaa M. Khidr ◽  
Talal M. Alghamdi ◽  
Najeebah A. Al Elk
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Growth Retardation ◽  
Mouth Opening ◽  
Anaesthetic Management ◽  
Review Of Literature ◽  
Limited Mouth Opening ◽  
Dysmorphic Features ◽  
History Of ◽  
Severe Growth

Sanjad-Sakati Syndrome (SSS) is a rare syndrome, discovered in Saudi Arabia in 1988. This syndrome is characterized by congenital hypoparathyroidism, severe growth retardation, dysmorphic features, mild to severe mental retardation as well as recurrent chest infections. We presented an eight-year-girl with SSS, with severe growth retardation, mental retardation, resolution of recent chest infection together with a history of bronchial asthma, dysmorphic features, limited mouth opening, micrognathia as well as high susceptibility to difficult intubation. The objective of this case report is to present the successful anaesthetic management of a rare genetic endocrinal syndrome.

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

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