Bart syndrome is a rare genetic disorder characterized by aplasia cutis congenita, epidermolysis bullosa (EB), and nail abnormalities. We reported an unusual case of Bart syndrome associated with skeletal abnormalities and bilateral clubfoot.
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Application of third-generation sequencing technology in the genetic testing of thalassemia.
Mol Cytogenet
December 2024
Prenatal Diagnostic Center, Medical Genetics Center, Department of Obstetrics and Gynaecology, The Seventh Affiliated Hospital of Sun Yat-sen University, 628 Zhenyuan Rd., Guangming Dist., Shenzhen, China.
Thalassemia is an autosomal recessive genetic disorder and a common form of Hemoglobinopathy. It is classified into α-thalassemia and β-thalassemia. This disease is mainly prevalent in tropical and subtropical regions, including southern China.
View Article and Find Full Text PDFThe First Compound Heterozygosity for Two Different α-Thalassemia Determinants Causes Hb Bart's Hydrops Fetalis in a Chinese Family.
Hemoglobin
December 2024
Department of Clinical Laboratory, Yulin Women and Children Health Care Hospital, Yulin, Guangxi Zhuang Autonomous Region, China.
In southern China, α-thalassemia is the most prevalent hereditary monogenic disorder, and deletion variants are the predominant form. Conventional thalassemia diagnosis techniques are numerous, however they are all limited in their ability to detect rare deletions. Here, we discuss a family who sought genetic counseling during their fourth pregnancy after experiencing Hb Bart's hydrops fetalis in two of their previous pregnancies.
View Article and Find Full Text PDFBart syndrome with musculoskeletal deformity: a rare case report.
Ann Med Surg (Lond)
December 2024
Nepal Medical College and Teaching Hospital, Kathmandu, Nepal.
Introduction: Bart syndrome is a rare genetic disorder characterized by epidermolysis bullosa (EB), aplasia cutis congenita, that is congenital local absence of skin and nail abnormalities.
Case Presentation: The authors herein, present a case of a 14-year-old boy with Bart syndrome. The syndrome was diagnosed clinically.
[What should be done in case of cutaneous sclerosis?].
Rev Med Suisse
November 2024
Service de médecine interne, Centre hospitalier universitaire vaudois, 1011 Lausanne.
Article Synopsis
- Cutaneous sclerosis is a condition where there is an abnormal increase of dermal or hypodermal elements, leading to skin thickening and hardening.
- It is commonly linked with systemic sclerosis but can also appear in various lesser-known syndromes that show a wide range of symptoms.
- The article discusses the causes, symptoms, and potential treatment options for these rare skin conditions.
A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China.
Pract Lab Med
November 2024
Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong, China.
Objective: Presentation of a novel case of a patient with Hb Bart's hydrops fetalis, which was accurately identified by SMRT sequencing leading to expand the mutation spectrum of α-thalassemia.
Case Report: A 26-year-old pregnant woman and her husband underwent molecular analysis of thalassemia due to abnormal hematological results. The molecular analysis showed that the pregnant woman carried -α/--, while her husband exhibited a negative result.
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