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   Articles with "hypoplasia" as a keyword



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Anatomical Details Should Accompany Studies of Hypoplastic Left Heart Syndrome

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recommendations! Published in 2019 at "Pediatric Cardiology"

DOI: 10.1007/s00246-019-02121-3

Abstract: Zakaria and colleagues recently reported surgical outcomes for developmental syndromes associated with hypoplastic left heart syndrome (HLHS) [1]. We were surprised to see Down and DiGeorge syndromes associated with HLHS as the literature does not… read more here.

Keywords: cardiology; left heart; ventricle; hlhs ... See more keywords
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Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata

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recommendations! Published in 2018 at "Pediatric Radiology"

DOI: 10.1007/s00247-018-4098-8

Abstract: BackgroundChondrodysplasia punctata is a skeletal dysplasia caused by a diverse spectrum of etiologies, with outcomes ranging from antenatal demise to a normal life span. Prenatal detection can be challenging.ObjectiveTo review a series of cases of… read more here.

Keywords: phenotype; prenatal mri; chondrodysplasia punctata; binder phenotype ... See more keywords
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Is There a Link Between Matriline Dominance Rank and Linear Enamel Hypoplasia? An Assessment of Defect Prevalence and Count in Cayo Santiago Rhesus Macaques (Macaca mulatta)

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recommendations! Published in 2019 at "International Journal of Primatology"

DOI: 10.1007/s10764-019-00084-z

Abstract: Linear enamel hypoplasias are developmental defects ranging in appearance from microscopic to macroscopic furrows in enamel that encircle the tooth crown. Environmental stressors, including lack of food and infectious diseases during early periods of development,… read more here.

Keywords: prevalence; matriline dominance; count; enamel ... See more keywords
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Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation.

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recommendations! Published in 2022 at "American journal of human genetics"

DOI: 10.1016/j.ajhg.2022.03.010

Abstract: Pontocerebellar hypoplasias (PCHs) are congenital disorders characterized by hypoplasia or early atrophy of the cerebellum and brainstem, leading to a very limited motor and cognitive development. Although over 20 genes have been shown to be… read more here.

Keywords: purkinje; hypoplasia; purkinje cells; brainstem dysfunction ... See more keywords
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Pulmonary Hypoplasia in a Young Adult.

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recommendations! Published in 2018 at "Archivos de bronconeumologia"

DOI: 10.1016/j.arbres.2017.08.003

Abstract: A 27-year-old Moroccan man, living in Spain for 9 years, with no known toxic habits or significant medical history. He was diagnosed incidentally with left pulmonary hypoplasia after consulting for non-specific chest pain. A marked… read more here.

Keywords: hypoplasia young; young adult; pulmonary hypoplasia; lung ... See more keywords

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

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recommendations! Published in 2021 at "Neuron"

DOI: 10.1016/j.neuron.2020.10.035

Abstract: Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of several fundamental cellular processes. Here, we identified 10 families showing a neurodegenerative condition involving pontocerebellar hypoplasia with microcephaly (PCHM).… read more here.

Keywords: hypoplasia microcephaly; pontocerebellar hypoplasia; ppil1 prp17; hypoplasia ... See more keywords
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Pulmonary Hypoplasia Induced by Oligohydramnios: Findings from Animal Models and a Population-Based Study.

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recommendations! Published in 2017 at "Pediatrics and neonatology"

DOI: 10.1016/j.pedneo.2016.04.001

Abstract: Pulmonary hypoplasia is a substantial cause of death in newborn infants, and oligohydramnios is one of the most commonly associated abnormalities. Lung growth is influenced by physical factors such as the intrauterine space, lung liquid… read more here.

Keywords: pulmonary hypoplasia; population based; lung; based study ... See more keywords
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Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

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recommendations! Published in 2018 at "European Journal of Human Genetics"

DOI: 10.1038/s41431-018-0098-2

Abstract: Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal onset. Eleven PCH subtypes are classified according to clinical, neuroimaging and genetic findings. Individuals with PCH type 9 (PCH9) have a unique… read more here.

Keywords: spectrum; ampd2 related; type; pontocerebellar hypoplasia ... See more keywords
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Hypoplasia of cerebellar afferent networks in Down syndrome revealed by DTI-driven tensor based morphometry

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recommendations! Published in 2020 at "Scientific Reports"

DOI: 10.1038/s41598-020-61799-1

Abstract: Quantitative magnetic resonance imaging (MRI) investigations of brain anatomy in children and young adults with Down syndrome (DS) are limited, with no diffusion tensor imaging (DTI) studies covering that age range. We used DTI-driven tensor… read more here.

Keywords: based morphometry; dti driven; hypoplasia; driven tensor ... See more keywords
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Developmental features and predicting airway failure risk in critically ill children with mandibular hypoplasia using 3D computational tomographic analysis

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recommendations! Published in 2021 at "Scientific Reports"

DOI: 10.1038/s41598-021-89302-4

Abstract: In children with mandibular hypoplasia, airway management is challenging. However, detailed cephalometric assessment data for this population are sparse. The aim of this study was to find risk factors for predicting difficult airways in children… read more here.

Keywords: mandibular hypoplasia; risk; distance; children mandibular ... See more keywords
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Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4

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recommendations! Published in 2021 at "Scientific Reports"

DOI: 10.1038/s41598-021-90896-y

Abstract: To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine… read more here.

Keywords: oculocutaneous albinism; patients oculocutaneous; foveal hypoplasia; dutch patients ... See more keywords