LMOD3‐Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings
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DOI: 10.1002/jum.14520
Abstract: To describe the prenatal presentation, including ultrasonographic, histologic, and molecular findings, in 2 fetuses affected with LMOD3‐related nemaline myopathy. Prenatal ultrasonographic examinations and histopathologic studies were performed on 2 fetuses with evidence of nemaline myopathy.… read more here.
Keywords: myopathy prenatal; affected fetuses; prenatal ultrasonographic; nemaline myopathy ... See more keywords
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis
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DOI: 10.1002/pd.6208
Abstract: Blomstrand osteochondrodysplasia (BOCD, MIM #215045) is an ultrarare lethal skeletal dysplasia (LSD) perinatally, characterized by extremely advanced bone maturation, generalized osteosclerosis, and severe tetramicromelia caused by biallelic loss‐of‐function mutations in the parathyroid hormone receptor‐1 gene… read more here.
Keywords: blomstrand osteochondrodysplasia; radiology; prenatal ultrasonographic; ultrasonographic features ... See more keywords
Prenatal ultrasonographic detection and prenatal (prior to birth) management of hereditary retinoblastoma
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DOI: 10.1007/s00417-017-3841-4
Abstract: Dear Editor, Retinoblastoma is a life-threatening intraocular malignancy that manifests, on average, by 15 months after birth and can lead to blindness, loss of eye, or death [1, 2]. Children with a family history of… read more here.
Keywords: detection; prenatal ultrasonographic; case; management ... See more keywords
Fetal Meconium Peritonitis: A Clinical Study of Nine Cases
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DOI: 10.1155/2022/8658999
Abstract: Objective To explore the prenatal ultrasonographic characteristics and pregnancy outcomes of fetal meconium peritonitis (FMP). Methods Nine patients diagnosed with FMP by routine prenatal examination between January 2015 and December 2020 were identified. Both prenatal… read more here.
Keywords: prenatal ultrasonographic; meconium peritonitis; peritonitis clinical; meconium ... See more keywords