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1989 1
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2003 2
2005 1
2007 1
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2019 1
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2023 2
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Page 1
The abnormal fontanel.
Kiesler J, Ricer R. Kiesler J, et al. Am Fam Physician. 2003 Jun 15;67(12):2547-52. Am Fam Physician. 2003. PMID: 12825844 Free article. Review.
At birth, an infant has six fontanels. The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months. ...
At birth, an infant has six fontanels. The anterior fontanel is the largest and most important for clinical evaluation. The av …
Hydrocephalus in children.
Rizvi R, Anjum Q. Rizvi R, et al. J Pak Med Assoc. 2005 Nov;55(11):502-7. J Pak Med Assoc. 2005. PMID: 16304873 Review.
Historically it is believed to result from imbalance between CSF production and absorption, with net accumulation of fluid in the cranial cavity; characterized by increase in size of the cerebral ventricles. ...The clinical features are increase in the size of head, with …
Historically it is believed to result from imbalance between CSF production and absorption, with net accumulation of fluid in the cranial …
Echoencephalography of Mobius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications.
Rawhani R, Sharma K, Maertens P. Rawhani R, et al. J Neuroimaging. 2023 Jan;33(1):35-43. doi: 10.1111/jon.13067. Epub 2022 Nov 9. J Neuroimaging. 2023. PMID: 36349559 Review.
METHODS: In this single tertiary center study, more than 18,000 neonates underwent echoencephalographic imaging over the span of two decades. Imaging was performed through the anterior, posterior, and lambdoid fontanelles. All neonates found to have calcifications o …
METHODS: In this single tertiary center study, more than 18,000 neonates underwent echoencephalographic imaging over the span of two decades …
Cranio-osteoarthropathy: a rare variant of hypertrophic osteoarthropathy.
Chen X, Zou CC, Dong GP, Liang L, Zhao ZY. Chen X, et al. Ir J Med Sci. 2012 Jun;181(2):257-61. doi: 10.1007/s11845-009-0346-0. Epub 2009 May 9. Ir J Med Sci. 2012. PMID: 19430868 Review.
Physical examination showed normal height and weight. A mild prominent nose, patent cranial sutures and anterior and posterior fontanel, clubbing of the digits without cyanosis, finger joint laxity, large nails, and mild knock-knee were noted. Radiographs sho …
Physical examination showed normal height and weight. A mild prominent nose, patent cranial sutures and anterior and posterior …
Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.
Kamali F, Jamee M, Sayer JA, Sadeghi-Bojd S, Golchehre Z, Dehghanzad R, Keramatipour M, Mohkam M. Kamali F, et al. CEN Case Rep. 2023 Nov;12(4):413-418. doi: 10.1007/s13730-023-00785-8. Epub 2023 Mar 26. CEN Case Rep. 2023. PMID: 36967423 Free PMC article. Review.
She consequently had failure to thrive. Other features included hypotonia, wide anterior fontanel, ventriculomegaly, and pseudotumor cerebri following administration of nalidixic acid. ...
She consequently had failure to thrive. Other features included hypotonia, wide anterior fontanel, ventriculomegaly, an …
Slit Ventricle as a Neurosurgical Emergency: Case Report and Review of Literature.
Mencser Z, Kopniczky Z, Kis D, Barzo P. Mencser Z, et al. World Neurosurg. 2019 Oct;130:493-498. doi: 10.1016/j.wneu.2019.07.006. Epub 2019 Jul 9. World Neurosurg. 2019. PMID: 31295607 Review.
BACKGROUND: Symptomatic slit ventricle is one of the most challenging complications of shunt surgery in children. Clinical signs and symptoms may appear with a wide range of intracranial pressure (ICP) values. We report the case of a 10-year-old girl, who did not present t …
BACKGROUND: Symptomatic slit ventricle is one of the most challenging complications of shunt surgery in children. Clinical signs and symptom …
De novo 1q32q44 duplication and distal 1q trisomy syndrome.
Nowaczyk MJ, Bayani J, Freeman V, Watts J, Squire J, Xu J. Nowaczyk MJ, et al. Am J Med Genet A. 2003 Jul 15;120A(2):229-33. doi: 10.1002/ajmg.a.20028. Am J Med Genet A. 2003. PMID: 12833404 Review.
The amniocentesis showed an abnormal male karyotype, 46,XY,dup(1)(q32q44), subsequently confirmed by fluorescence in situ hybridization using whole chromosome paint 1 and comparative genomic hybridization. The baby, born at 37 weeks of gestation, had wide cranial su …
The amniocentesis showed an abnormal male karyotype, 46,XY,dup(1)(q32q44), subsequently confirmed by fluorescence in situ hybridization usin …
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review.
Minale EMP, De Falco A, Agolini E, Novelli A, Russo R, Andolfo I, Iolascon A, Piscopo C. Minale EMP, et al. Genes (Basel). 2024 Jan 20;15(1):130. doi: 10.3390/genes15010130. Genes (Basel). 2024. PMID: 38275611 Free PMC article. Review.
Herein, we describe a rare case of a 10-year-old boy with a history of an anterior fontanel that closed only at the age of 9. The patient presents with short proportionate stature, low weight, and neurological impairment, including intellectual disability, global de …
Herein, we describe a rare case of a 10-year-old boy with a history of an anterior fontanel that closed only at the age of 9. …
Neonatal macrocephaly: cerebral primitive neuroectodermal tumor or neuroblastoma as an infrequent cause--a case report and review of the literature.
Kaczala GW, Poskitt KJ, Steinbok P, Hendson G, Eydoux P, Solimano AJ. Kaczala GW, et al. Am J Perinatol. 2007 Oct;24(9):507-9. doi: 10.1055/s-2007-986698. Epub 2007 Oct 1. Am J Perinatol. 2007. PMID: 17909991 Review.
We report a male term newborn presenting with a congenital macrocephaly 3.5 standard deviations above the median, with a wide and tense anterior fontanel, splayed calvarial sutures, and muscular hypotonia. ...
We report a male term newborn presenting with a congenital macrocephaly 3.5 standard deviations above the median, with a wide and ten …
3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome).
Verloes A, Dresse MF, Jovanovic M, Dodinval P, Geubelle F. Verloes A, et al. Clin Genet. 1989 Mar;35(3):205-8. doi: 10.1111/j.1399-0004.1989.tb02929.x. Clin Genet. 1989. PMID: 2650935 Review.
We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and facial dysmorphism (evoking cleidocranial dysplasia), relative macroencephaly with cerebellar vermis hypoplasia, hypertelorism, skeletal abnormalities ( …
We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and facial dysmo …
11 results