The author has analyzed 54 patients aged from 9 months till 14 years with one of the types of congenital underdevelopment of fingers-brachydactyly. This form of the congenital pathology of the hand is concretized, the X-ray and clinical picture of brachydactyly is analyzed and more exact classification of this pathology is given. The state of blood supply, innervation and histological structure of the abnormal hand tissues are studied. Methods of treatment are determined.
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Mol Genet Genomic Med
October 2024
Institute of Human Genetics, Medical Faculty, University of Bonn, University Hospital Bonn, Bonn, Germany.
Background: Acromesomelic chondrodysplasias are a rare subgroup of the clinically and genetically heterogeneous osteochondrodysplasias that are characterised by abnormalities in the limb development and short stature. Here, we report a 2-year-old boy, offspring of consanguineous parents, with acromesomelic dysplasia and postaxial polydactyly in which exome sequencing identified a novel homozygous missense variant in BMPR1B. The patient showed skeletal malformation of both hands and feet that included complex brachydactyly with the thumbs most severely affected, postaxial polydactyly of both hands, shortened toes as well as a bilateral hypoplasia of the fibula.
View Article and Find Full Text PDFJ Bone Miner Res
October 2024
Clinical Genetics, Guy's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, SE1 9RT, United Kingdom.
Int J Surg Case Rep
September 2024
Juárez University of the State of Durango, Mexico. Electronic address:
Introduction And Importance: Polybrachysyndactyly is the combination of malformations and is considered a congenital anomaly that is very difficult to treat. In addition to presenting as a disabling entity, it is a reason for little acceptance under the aesthetic standards established by society.
Case Presentation: 6-year-old male patient with polybrachysyndactyly in all 4 extremities.
J Foot Ankle Surg
August 2024
Department of Plastic, Reconstructive, and Hand Surgery, University of Tsukuba, Tsukuba, Ibaraki 305-8577, Japan.
Surgical methods for lateral ray polydactyly with brachydactyly of the foot include simple toe ablation and toe lengthening. However, there are few reports on comparative studies, and there is no standard treatment. We retrospectively investigated cases of lateral ray polydactyly with brachydactyly treated at our department and related facilities.
View Article and Find Full Text PDFJ Pediatr Orthop
August 2024
Department of Plastic, Reconstructive and Hand surgery, Amsterdam Universitair Medisch Centrum, Amsterdam.
Background: The Oberg-Manske-Tonkin (OMT) classification established excellent reliability scores in several validation studies. However, one study published in 2022 found much lower scores in a subanalysis of their sample when very simple anomalies were excluded. Our study assessed the reliability of the OMT among physicians with a different background, all involved in congenital hand anomaly care, and analyzed codes with less agreement.
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