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Neonatal Familiar Cleidocranial Dysplasia: A Case Report.
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFUnusual presentation of an aggressive ovarian malignancy in a young pregnant woman.
BMJ Case Rep
January 2025
Obstetrics and Gynaecology, NHS Ayrshire and Arran, Ayr, South Ayrshire, UK.
Cancer during pregnancy is uncommon. Symptoms caused by new cancers in pregnancy can be difficult to recognise leading to a delay in diagnosis and treatment. Ovarian cancer during pregnancy poses a further diagnostic challenge due to the vague symptoms that it can present, along with difficulty in the interpretation of tumour markers.
View Article and Find Full Text PDFAn Atypical Case of Neonatal Alloimmune Thrombocytopenia.
J Pediatr Hematol Oncol
January 2025
Departments of Laboratory Medicine.
Fetal and neonatal alloimmune thrombocytopenia (FNAIT) results from maternal antibodies targeting fetal platelets during pregnancy, often causing hemorrhagic manifestations detectable antenatally or shortly after birth. We report an atypical form of FNAIT with delayed onset in a healthy, breastfed male infant who developed diffuse petechiae 2 weeks after birth due to severe thrombocytopenia. The mother was shown to be negative for the human platelet antigen-1a (HPA-1a) allele but had anti-HPA-1a IgG antibodies, while the father and newborn were HPA-1a positive, confirming the diagnosis.
View Article and Find Full Text PDFCurrent status and trends in thalassemia burden across South, East and Southeast Asia, 1990-2021 a systematic analysis for the global burden of disease study 2021.
BMC Public Health
December 2024
Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350001, People's Republic of China.
Objective: Thalassemia, an inherited hemoglobin synthesis disorder, imposes a significant health burden in Asian regions with high prevalence. Detailed patterns and trends of the disease across countries and territories within these regions remain underexplored. Our study focuses on the disease burden indices of thalassemia within the four GBD-defined Asian regions and the twenty-five included countries and territories.
View Article and Find Full Text PDFIntrathoracic ectopic kidney with pulmonary sequestration: clinical and surgical insights: a case report.
J Surg Case Rep
December 2024
Pediatric Surgery Center, National Ribat University Hospital, Khartoum, Sudan.
Intrathoracic ectopic kidney is an extremely rare congenital defect that is frequently identified by accident because it is asymptomatic. Even more unusual is its link to pulmonary sequestration alone. This case report describes the clinical presentation of a 7-month-old child with a history of recurrent respiratory distress and chest infections since birth, who had shortness of breath, failure to thrive, and delayed developmental milestones.
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