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| http://dx.doi.org/10.1136/bcr-2018-228183 | DOI Listing |
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Central Tetrapolydactyly With Atrial Septal Defect and Facial Nerve Palsy in a 15-Month-Old Female Child.
Cureus
July 2024
Paediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Polydactyly, which is the presence of an extra appendage on the hand or the foot, is a common congenital anomaly encountered in children. It may be an isolated finding or found in conjunction with other congenital anomalies and syndromes. Polydactyly can occur in the hands or the feet.
View Article and Find Full Text PDFIncreasing Sufu gene dosage reveals its unorthodox role in promoting polydactyly and medulloblastoma tumorigenesis.
JCI Insight
February 2024
Department of Medical Genetics, Nanjing Medical University, Nanjing, China.
Suppressor of fused (SUFU) is widely regarded as a key negative regulator of the sonic hedgehog (SHH) morphogenic pathway and a known tumor suppressor of medulloblastoma (MB). However, we report here that SUFU expression was markedly increased in 75% of specimens compiled in a tissue array comprising 49 unstratified MBs. The SUFU and GLI1 expression levels in this MB array showed strong positive correlation, which was also identified in a large public data set containing 736 MBs.
View Article and Find Full Text PDFPaternal age and risk for selected birth defects in a large South American sample.
Birth Defects Res
November 2023
Laboratorio de Epidemiología Genética, Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas y Técnicas (CEMIC-CONICET), Ciudad Autónoma de Buenos Aires, Buenos Aires, Argentina.
Background: The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been reached on the best way to control the association of PA with MA.
Objectives: The aim of the study was to evaluate the risk of PA increase, at 1-year intervals, for selected BD, especially controlling for the confounding effect of MA.
Femoral posture during embryonic and early fetal development: An analysis using landmarks on the cartilaginous skeletons of ex vivo human specimens.
PLoS One
May 2023
Human Health Science, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
The pre-axial border medially moves between the fetal and early postnatal periods, and the foot sole can be placed on the ground. Nonetheless, the precise timeline when this posture is achieved remains poorly understood. The hip joint is the most freely movable joint in the lower limbs and largely determines the lower-limb posture.
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