Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
1987 1
1993 2
2007 1
2010 1
2012 1
2015 1
2017 1
2018 1
2023 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Results by year

Filters applied: . Clear all
Page 1
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM. Fetta A, et al. Orphanet J Rare Dis. 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5. Orphanet J Rare Dis. 2024. PMID: 38459574 Free PMC article. Review.
Corpus callosum abnormalities were found in 20/30 (67%) patients: 6 had callosal hypoplasia; 8 had global hypoplasia with hypoplastic splenium; 4 had only hypoplastic splenium; and 2 had a thin corpus callosum. Cerebral hypoplasia/atrophy was found in 23/31 (74%) an …
Corpus callosum abnormalities were found in 20/30 (67%) patients: 6 had callosal hypoplasia; 8 had global hypoplasia with hypoplastic spleni …
Missed diagnosis of lissencephaly after prenatal diagnosis: A case report.
Liu M, Liu X, Wu J, Sha J, Zhai J, Zhang B. Liu M, et al. Medicine (Baltimore). 2023 Feb 17;102(7):e33014. doi: 10.1097/MD.0000000000033014. Medicine (Baltimore). 2023. PMID: 36800618 Free PMC article.
LESSONS: Comprehensive evaluation of a multi-disciplinary team should be recommended for patients with epilepsy and cerebral hypoplasia. Individuals with LIS during the fetal period might be missed due to atypical features. ...
LESSONS: Comprehensive evaluation of a multi-disciplinary team should be recommended for patients with epilepsy and cerebral hypop …
Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
Rosa RF, Graziadio C, Lenhardt R, Alves RP, Paskulin GA, Zen PR. Rosa RF, et al. Arq Neuropsiquiatr. 2010 Feb;68(1):98-102. doi: 10.1590/s0004-282x2010000100021. Arq Neuropsiquiatr. 2010. PMID: 20339662 Free article.
RESULTS: CNS alterations were verified in eight from seventeen patients (47%). Diffuse cerebral hypoplasia, dilated lateral cerebral ventricles (asymptomatic hydrocephalus), corpus callosum dysgenesis and frontal hypodensities were the most frequent abnormalities. . …
RESULTS: CNS alterations were verified in eight from seventeen patients (47%). Diffuse cerebral hypoplasia, dilated lateral ce …
Surgical Management of Iris Bombe in Muscle-Eye-Brain Disease.
Gholap RS, Bharucha-Goebel DX, Shats DA, Panchal BK, Chong J, Levin MR, Alexander JL. Gholap RS, et al. J Pediatr Ophthalmol Strabismus. 2023 Jul-Aug;60(4):e35-e37. doi: 10.3928/01913913-20230518-01. Epub 2023 Jul 1. J Pediatr Ophthalmol Strabismus. 2023. PMID: 37478202
A 2-year-old girl with severe muscular dystrophy presented with unilateral eye pain and corneal clouding. She was found to have absent red reflex, hypotonia, cerebral hypoplasia, and iris bombe on ultrasound biomicroscopy, a feature not previously reported in this s …
A 2-year-old girl with severe muscular dystrophy presented with unilateral eye pain and corneal clouding. She was found to have absent red r …
Cerebral hemiatrophy, hypoplasia of internal carotid artery, and intracranial aneurysm. A rare association occurring in an infant.
Afifi AK, Godersky JC, Menezes A, Smoker WR, Bell WE, Jacoby CG. Afifi AK, et al. Arch Neurol. 1987 Feb;44(2):232-5. doi: 10.1001/archneur.1987.00520140090024. Arch Neurol. 1987. PMID: 3813939
A 4-month-old child with a very rare association of primary (congenital) left cerebral hypoplasia, hypoplasia of the left internal carotid artery, and giant anterior communicating artery aneurysm was seen. ...We briefly reviewed the literature on agenesis (hypoplasi …
A 4-month-old child with a very rare association of primary (congenital) left cerebral hypoplasia, hypoplasia of the left inte …
Cerebral morphologic distinctions between Williams and Down syndromes.
Jernigan TL, Bellugi U, Sowell E, Doherty S, Hesselink JR. Jernigan TL, et al. Arch Neurol. 1993 Feb;50(2):186-91. doi: 10.1001/archneur.1993.00540020062019. Arch Neurol. 1993. PMID: 8431138
In a previous report, we described several gross brain morphologic distinctions on magnetic resonance images between these two disorders. While the observed cerebral hypoplasia was of equal degree in the two groups, cerebellar size was entirely normal in the subject …
In a previous report, we described several gross brain morphologic distinctions on magnetic resonance images between these two disorders. Wh …
A case of cerebral hypoplasia/dysplasia detected at autopsy.
İnanir NT, Eren F, Ural MN, Eren B, Gürses MS. İnanir NT, et al. Soud Lek. 2015 Winter;60(1):4-6. Soud Lek. 2015. PMID: 25671418 English.
We aimed to discuss in the light of the literature a case with cerebral hypoplasia which is rarely seen at forensic autopsies. KEYWORDS: cerebral hypoplasia/dysplasia - autopsy - congenital malformation - sudden death....
We aimed to discuss in the light of the literature a case with cerebral hypoplasia which is rarely seen at forensic autopsies. …
Linear nevus sebaceous syndrome associated with choroidal hemangioma.
Yan J, Qiu H, Li Y. Yan J, et al. Orbit. 2007 Dec;26(4):331-5. doi: 10.1080/01676830601169171. Orbit. 2007. PMID: 18097980
Extensive choristomas of the superior bulbar conjunctiva and nearly the whole cornea were found in the left eye. CT-scans of both the brain and orbit disclosed left cerebral hypoplasia, dysplasia of sphenoid bone and temporal bone, and multiple calcifications of pos …
Extensive choristomas of the superior bulbar conjunctiva and nearly the whole cornea were found in the left eye. CT-scans of both the brain …
Hypomelanosis of Ito: neurological and psychiatric pictures in developmental age.
Parisi L, Di Filippo T, Roccella M. Parisi L, et al. Minerva Pediatr. 2012 Feb;64(1):65-70. Minerva Pediatr. 2012. PMID: 22350047
Autism, epilepsy, language disorders, cerebral malformations (neural migration disorders, cerebral hypoplasia, cortical atrophy, agenesis of the corpus callosum) are sometimes present. ...
Autism, epilepsy, language disorders, cerebral malformations (neural migration disorders, cerebral hypoplasia, cortical atroph …
12 results