Hereditary onycho-osteodysplasia (HOOD) is an autosomal dominant condition, characterized by dysplasia of the nails and joints and extra bone formation at the os ilium. Nephropathy occurs in some families with HOOD. We discuss a patient's history and the results of the study of her family. The incidence of all important features of this syndrome is given. Finally, some methods of treatment and genetic counseling are discussed.
Download full-text PDF |
Source |
---|
J Obstet Gynaecol Res
January 2025
Department of Maternal Fetal Medicine, Health Science University, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
Introduction: Persistent right umbilical vein (PRUV) is an embryonic vascular abnormality. Recent studies suggested that the perinatal outcome was good and the risk of aneuploidy was low in isolated forms. Our purpose in this study was to assess the relation of PRUV with genetic abnormalities and demonstrate concomitant malformations and perinatal outcomes of these fetuses.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Pain and Palliative Care, Hôpital Necker-Enfants Malades, AP-HP, 149 rue de Sèvres, Paris, France.
Nail-patella syndrome (NPS) is a rare genetic disease characterized by dysplastic nails, patella abnormalities, skeletal malformation, and chronic pain. Although chronic pain in NPS is mainly due to bone and musculoskeletal symptoms, it can also result from neurological dysfunction. Conventional analgesics are often insufficient to relieve NPS-associated chronic pain.
View Article and Find Full Text PDFRadiol Case Rep
October 2024
Department of Radiology, National Academy of Medical Sciences, Bir Hospital, Kathmandu, Nepal.
Nail-patella syndrome (NPS) is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns and dysplasia of the elbows. We present a case of a 56-year-old female presenting with bilateral knee pain, where initial radiographic findings of hypoplastic patellae prompted further investigation, revealing characteristic skeletal anomalies consistent with NPS. This case underscores the importance of recognizing radiological clues and conducting thorough clinical evaluation to diagnose rare genetic conditions such as NPS.
View Article and Find Full Text PDFHSS J
August 2024
Department of Pediatric Orthopedics, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Pediatr Int
July 2024
Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!