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| http://dx.doi.org/10.1159/000398817 | DOI Listing |
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Phenotype-to-Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study.
Prenat Diagn
January 2025
Department of Obstetrics and Gynecology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Objective: To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies.
Method: Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit. Prenatally on ultrasound suspected upper limb anomalies, such as transverse and longitudinal reduction defects, polydactyly, and syndactyly, and postnatally identified children referred to the Congenital Hand Team were evaluated separately.
Radial Longitudinal Deficiency: New Perspectives on an Enduring Challenge.
Ann Plast Surg
December 2024
Radial longitudinal deficiency (RLD) is a multidimensional congenital hand difference encompassing skeletal, musculotendinous, and joint components. Managing RLD remains challenging, with numerous surgical procedures over the past century failing to achieve a stable, mobile, growing wrist without recurrence of the deformity. This review investigates new therapeutic approaches for RLD, delving into genetic, embryological, and histological aspects, including proximal muscle involvement and causes of recurrence.
View Article and Find Full Text PDFCollaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.
Front Endocrinol (Lausanne)
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Department of Pediatrics, Faculty of Medical Sciences, Medical University of Silesia in Katowice, Zabrze, Poland.
Bardet-Biedl Syndrome (BBS) is an autosomal recessive non-motile ciliopathy, caused by mutations in more than twenty genes. Their expression leads to the production of BBSome-building proteins or chaperon-like proteins supporting its structure. The prevalence of the disease is estimated at 1: 140,000 - 160,000 of life births.
View Article and Find Full Text PDFDiagnosis and management of longitudinal erythronychia: A clinical review by an expert panel.
J Am Acad Dermatol
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Department of Dermatology, Weill Cornell Medicine, New York, New York. Electronic address:
Longitudinal erythronychia (LE) is defined as a longitudinal red band of the nail(s) and is classified as localized (involvement of 1 nail) or polydactylous (involvement of more than 1 nail). The differential diagnosis is distinct for these classifications. The etiologies of localized longitudinal erythronychia are most frequently benign subungual neoplasms and less often malignancies.
View Article and Find Full Text PDFClinical evidence of the association between radial longitudinal deficiency and radial polydactyly: a case series.
J Hand Surg Eur Vol
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Department of Plastic, Hand and Reconstructive Microsurgery, Ganga Hospital, Coimbatore, Tamil Nadu, India.
Radial longitudinal deficiency (RLD) is commonly associated with thumb hypoplasia. The association between RLD and radial polydactyly (RP) is uncommon, but case reports or case series have been reported. We report our experience of managing patients with this association.
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