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Year Number of Results
1999 1
2003 1
2015 1
2019 2
2020 1
2021 2
2022 1
2024 0

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Page 1
Reviewing the prognostic factors in myelomeningocele.
Protzenko T, Bellas A, Pousa MS, Protzenko M, Fontes JM, de Lima Silveira AM, Sá CA, Pereira JP, Salomão RM, Salomão JFM, Dos Santos Gomes SC. Protzenko T, et al. Neurosurg Focus. 2019 Oct 1;47(4):E2. doi: 10.3171/2019.7.FOCUS19462. Neurosurg Focus. 2019. PMID: 31574474
There was a significant association between recurrent UTI and thoracic functional level. CONCLUSIONS: Macrocephaly at birth and higher levels of the defect have an impact on worse outcome and, therefore, are a challenge to the daily practice of pediatric neur …
There was a significant association between recurrent UTI and thoracic functional level. CONCLUSIONS: Macrocephaly at birth …
Head circumference at birth and intellectual disability: a nationwide cohort study.
Aagaard K, Matthiesen NB, Bach CC, Larsen RT, Henriksen TB. Aagaard K, et al. Pediatr Res. 2020 Feb;87(3):595-601. doi: 10.1038/s41390-019-0593-3. Epub 2019 Oct 2. Pediatr Res. 2020. PMID: 31578043
RESULTS: The cohort comprised 986,909 infants. Neither microcephaly nor macrocephaly at birth was consistently associated with the risk of ID. ...
RESULTS: The cohort comprised 986,909 infants. Neither microcephaly nor macrocephaly at birth was consistently associat …
Would Zika virus Infection in Pregnancy Be a Sentence of Poor Neurological Prognosis for Exposed Children? Neurodevelopmental Outcomes in a Cohort from Brazilian Amazon.
Abtibol-Bernardino MR, Peixoto LFAA, Castilho MDC, Bôtto-Menezes CHA, Benzecry SG, Otani RH, Rodrigues GRI, Chaves BCS, Oliveira GA, Rodrigues CS, Martinez-Espinosa FE, Alecrim MDGC. Abtibol-Bernardino MR, et al. Viruses. 2022 Nov 28;14(12):2659. doi: 10.3390/v14122659. Viruses. 2022. PMID: 36560662 Free PMC article.
All microcephalic children (5.2%) evolved with severe neuropsychomotor-development delay, spastic tetraparesis, and alterations in the imaging exam. In this cohort, 10.5% of the children had macrocephaly at birth, but only 2.6% remained in this classification …
All microcephalic children (5.2%) evolved with severe neuropsychomotor-development delay, spastic tetraparesis, and alterations in the imagi …
Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.
Fuke T, Nakamura A, Inoue T, Kawashima S, Hara KI, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Fuke T, et al. J Clin Endocrinol Metab. 2021 Mar 8;106(3):802-813. doi: 10.1210/clinem/dgaa856. J Clin Endocrinol Metab. 2021. PMID: 33236057 Free PMC article.
RESULTS: These 249 patients with SGA-SS were classified into the "SRS-compatible group" (n = 148), the "non-SRS with normocephaly or relative macrocephaly at birth group" (non-SRS group) (n = 94), or the "non-SRS with relative microcephaly at birth group" (no …
RESULTS: These 249 patients with SGA-SS were classified into the "SRS-compatible group" (n = 148), the "non-SRS with normocephaly or relativ …
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, Van Kien PK, Chiaverini C, Giuliano F, Alessandri JL, Mathieu-Dramard M, Morin G, Bursztejn AC, Mignot C, Doummar D, Di Rocco F, Cornaton J, Nicolas C, Gautier E, Luu M, Bardou M, Sorlin A, Philippe C, Edery P, Rossi M, Carmignac V, Thauvin-Robinet C, Vabres P, Faivre L. Garde A, et al. Clin Genet. 2021 May;99(5):650-661. doi: 10.1111/cge.13918. Epub 2021 Jan 20. Clin Genet. 2021. PMID: 33415748
MRI images were reviewed for 21 patients. The main clinical features reported were macrocephaly at birth (20/31), postnatal macrocephaly (31/32), body/facial asymmetry (21/33), cutaneous capillary malformations (naevus flammeus 28/33, cutis marmorata 17/33). …
MRI images were reviewed for 21 patients. The main clinical features reported were macrocephaly at birth (20/31), postn …
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome.
Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, Harbison MD. Azzi S, et al. J Med Genet. 2015 Jul;52(7):446-53. doi: 10.1136/jmedgenet-2014-102979. Epub 2015 May 7. J Med Genet. 2015. PMID: 25951829 Free PMC article.
Clinical scores were generated for all patients, with a new, six-item scoring system: (1) small for gestational age, birth length and/or weight -2SDS, (2) postnatal growth retardation (height -2SDS), (3) relative macrocephaly at birth, (4) body asymmetry, (5) …
Clinical scores were generated for all patients, with a new, six-item scoring system: (1) small for gestational age, birth length and/or wei …
Type I glutaric aciduria, part 1: natural history of 77 patients.
Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Strauss KA, et al. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):38-52. doi: 10.1002/ajmg.c.20007. Am J Med Genet C Semin Med Genet. 2003. PMID: 12888985
We present detailed clinical, neuroradiologic, molecular, biochemical, and functional data on 77 patients with GA1 representative of a 14-year clinical experience. Microencephalic macrocephaly at birth is the earliest sign of GA1 and is associated with stretc …
We present detailed clinical, neuroradiologic, molecular, biochemical, and functional data on 77 patients with GA1 representative of a 14-ye …
Glutaric aciduria type I: ultrasonographic demonstration of early signs.
Forstner R, Hoffmann GF, Gassner I, Heideman P, De Klerk JB, Lawrenz-Wolf B, Doringer E, Weiss-Wichert P, Tröger J, Colombo JP, Plöchl E. Forstner R, et al. Pediatr Radiol. 1999 Feb;29(2):138-43. doi: 10.1007/s002470050558. Pediatr Radiol. 1999. PMID: 9933336 Clinical Trial.
CT and MRI demonstrated fronto-temporal atrophy with lack of opercularisation in all cases and basal ganglia or periventricular hypodensities in three patients. CONCLUSIONS: In patients with macrocephaly at birth or rapidly developing within the first weeks o …
CT and MRI demonstrated fronto-temporal atrophy with lack of opercularisation in all cases and basal ganglia or periventricular hypodensitie …