scholarly journals Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Intellectual Disability ◽  
Corpus Callosum ◽  
Corpus Callosum Agenesis

Clinical Outcome of Children with Corpus Callosum Agenesis

2019 ◽  
Author(s):  
Vera Raile ◽  
Nina Herz ◽  
Gabriel Promnitz ◽  
Joanna Schneider ◽  
Angela Maria Kaindl
Keyword(s):  
Corpus Callosum ◽  
Clinical Outcome ◽  
Corpus Callosum Agenesis

scholarly journals A Case With 4 de Novo Copy Number Variations With Clinical Features That Overlap 1q43q44 Microdeletion and 3q29 Microduplication Syndromes

2018 ◽  
Vol 5 ◽  
pp. 2329048X1879820
Author(s):  
Miriam Kessi ◽  
Jing Peng ◽  
Lifen Yang ◽  
Haolin Duan ◽  
Yulin Tang ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Corpus Callosum ◽  
Copy Number ◽  
De Novo ◽  
Copy Number Variations ◽  
Language Delay ◽  
Global Developmental Delay ◽  
Recurrent Infections ◽  
Dental Anomalies ◽  
Microdeletion Syndrome

1q43q44 microdeletion syndrome is characterized by intellectual disability/global developmental delay, epilepsy, dysmorphic facies, stereotypic movement, language delay, recurrent infections, dental anomalies, and hand and foot anomalies. Microcephaly and corpus callosum dysplasia are present in some cases depending on gene content. 3q29 microduplication syndrome is characterized by intellectual disability, language delay, microcephaly, and dental anomalies. We report the first case with 4 de novo copy number variations with clinical features which overlap 1q43q44 microdeletion and 3q29 microduplication syndromes. Our case presented with global developmental delay, epilepsy, recurrent infections, stereotypic movements, speech delay, microcephaly, facial dysmorphism, bilateral clinodactyly, and small puffy feet with metatarsus varus; however, she had no corpus callosum dysplasia. Our case highlights the role of multiple copy number variations in the occurrence of a certain phenotype. Moreover, it supports the theory that the loss of HNRNPU gene function cannot explain the occurrence of microcephaly and abnormalities of the corpus callosum in 1q43q44 microdeletion syndrome.

Microcephaly Thin Corpus Callosum Intellectual Disability Syndrome Caused by Mutated TAF2

2013 ◽  
Vol 49 (6) ◽  
pp. 411-416.e1 ◽  
Author(s):  
Shlomit Hellman-Aharony ◽  
Pola Smirin-Yosef ◽  
Ayelet Halevy ◽  
Metsada Pasmanik-Chor ◽  
Adva Yeheskel ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Corpus Callosum ◽  
Thin Corpus Callosum
Sign in / Sign up

Export Citation Format

Share Document