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http://dx.doi.org/10.1111/j.1442-200X.2010.03048.x | DOI Listing |
Cytogenet Genome Res
June 2023
Medicover Genetics GmbH, Berlin, Germany.
Disorders of or differences in sexual development (DSD) are defined by congenital conditions in which development of chromosomal, gonadal, or anatomic sex are atypical. Here, we report on monochorionic diamniotic twins delivered by caesarean section in the 36th week of pregnancy. Monochorionic twins are usually monozygous and thus should have the same sexual differentiation.
View Article and Find Full Text PDFEur J Med Genet
July 2021
Eskişehir Osmangazi University Faculty of Medicine, Department of Neonatology, Eskişehir, Turkey.
Congenital diaphragmatic hernia (CDH) is a serious life-threatening birth defect characterized by abnormal development in the muscular or tendinous portion of the diaphragm during embryogenesis. Despite its high incidence, the etiology of CDH hasn't been fully understood. Genetic factors are important in pathogenesis; however, few single genes have been definitively implicated in human CDH.
View Article and Find Full Text PDFAnim Reprod
February 2021
Curso de Medicina Veterinária, Faculdade de Agronomia e Medicina Veterinária, Universidade de Passo Fundo - UPF, Passo Fundo, RS, Brasil.
Twin birth is a complex condition observed in most livestock animals, when the female gives birth to two or more offspring, generally out of the same mating. In cattle, it is a rare condition (3 to 5%) and depends on the genetic background and environmental factors. Twin birth is a result of multiple ovulations, being more common in dairy rather than in beef cattle.
View Article and Find Full Text PDFJ Endocr Soc
March 2019
Department of Pediatrics, Kitano Hospital, Tazuke Kofukai Medical Research Institute, Osaka, Japan.
Maternal-fetal transport of calcium (Ca) is important for bone mineralization in fetal development. Insufficient Ca transport causes transient neonatal hyperparathyroidism (TNHP). Transient receptor potential cation channel, subfamily V, member 6 (TRPV6), has been found to play an important role in the active transport of Ca through the placenta.
View Article and Find Full Text PDFArch Pediatr
September 2016
Service de néphrologie, rhumatologie et dermatologie pédiatriques, Centre de référence des maladies rénales rares, hôpital Femme Mère Enfant, 59, boulevard Pinel, 69677 Bron, France; Département de pédiatrie, CHU de Grenoble, 38043 Grenoble, France; Service de néonatologie, hôpital Femme Mère Enfant, 69500 Bron, France; Centre orthopédique Santy, 69008 Lyon, France; Service d'urgences pédiatriques, hôpital Femme Mère Enfant, 69500 Bron, France; Faculté de médecine Lyon Est, université de Lyon, 69008 Lyon, France. Electronic address:
Background: Bisphosphonates (BP) are sometimes used in children and young women, but their use requires expertise and caution due to the relative lack of long-term efficacy and safety data.
Clinical Cases: We report on two dizygotic male twins with a past of mild prematurity who presented at the age of 2 months with moderate clinical craniotabes, hypophosphatemia, normal circulating calcium, severe hypercalciuria, and low parathyroid hormone levels. Following supplementation with oral phosphorus and native vitamin D, the clinical and biological abnormalities disappeared within 2 months.
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