scholarly journals A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features

2020 ◽  
Vol 8 (11) ◽  
Author(s):  
Yan Zhang ◽  
Cai Mei Lin ◽  
Xiao Lan Zheng ◽  
Kuerbanjiang Abuduxikuer
Keyword(s):  
Corpus Callosum ◽  
Developmental Delay ◽  
Nonsense Mutation ◽  
Chinese Patient ◽  
Dysmorphic Features

scholarly journals PRUNE Syndrome Is a New Neurodevelopmental Disorder

2018 ◽  
Vol 5 ◽  
pp. 2329048X1775223 ◽  
Author(s):  
Majid Alfadhel ◽  
Marwan Nashabat ◽  
Khalid Hundallah ◽  
Amal Al Hashem ◽  
Ahmed Alrumayyan ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Developmental Delay ◽  
Brain Atrophy ◽  
Neurodevelopmental Disorder ◽  
Brain Magnetic Resonance Imaging ◽  
Compound Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Neurodevelopmental Disease ◽  
Dysmorphic Features ◽  
Delayed Myelination

PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PRUNE1 on chromosome 1q21. Here, We report on 12-month-old and 30-month-old girls from 2 unrelated Saudi families with typical presentations of PRUNE syndrome. Both patients had severe developmental delay, progressive microcephaly, and dysmorphic features. Brain magnetic resonance imaging showed slight thinning in the corpus callosum, mild frontal brain atrophy, and delayed myelination in one of the patients. Both patients had the same missense mutation in PRUNE1 (c.383G>A, p.Arg128Gln), which was not reported before in a homozygous state. We compared our patients to previously reported cases. In conclusion, We suggest that clinicians consider PRUNE syndrome in any child presenting with dysmorphic features, developmental delay, progressive microcephaly, central hypotonia, peripheral spasticity, delayed myelination, brain atrophy, and a thin corpus callosum.

scholarly journals Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

2018 ◽  
Vol 93 (4) ◽  
pp. 752-761 ◽  
Author(s):  
Z. Powis ◽  
K.D. Farwell Hagman ◽  
C. Mroske ◽  
K. McWalter ◽  
J.S. Cohen ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Global Developmental Delay ◽  
Dysmorphic Features ◽  
Reduced Penetrance

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum

2018 ◽  
Vol 40 (2) ◽  
pp. 134-139 ◽  
Author(s):  
Yuji Nakamura ◽  
Yasuko Togawa ◽  
Yusuke Okuno ◽  
Hideki Muramatsu ◽  
Kazuhiko Nakabayashi ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Developmental Delay ◽  
Clinical Entity ◽  
Biallelic Mutations

Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11‐q12.13

2019 ◽  
Vol 60 (2) ◽  
pp. 73-74
Author(s):  
Makiko Tominaga ◽  
Toshiyuki Saito ◽  
Mitsuo Masuno ◽  
You Umeda ◽  
Kenji Kurosawa
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Dysmorphic Features

Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features

2018 ◽  
Vol 176 (12) ◽  
pp. 2548-2553 ◽  
Author(s):  
Caleb P. Bupp ◽  
Chad R. Schultz ◽  
Katie L. Uhl ◽  
Surender Rajasekaran ◽  
André S. Bachmann
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Pathogenic Variant ◽  
Dysmorphic Features
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