About 1,120 results

ALLMedicine™ Syndactyly Center

Research & Reviews  428 results

Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L miss...
Molecular Genetics & Genomic Medicine; Liu J, Hu J et. al.

Mar 20th, 2023 - Neurodevelopmental disorders associated with periventricular nodular heterotopia (PVNH) are characterized by phenotypic and genetic heterogeneity. NEDD4L mutation can lead to PVNH7. However, at present, only eight NEDD4L pathogenic variants have b...

An Evolution of the Surgical Management of Synpolydactyly: A Case Series of 21 Hands.
Annals of Plastic Surgery; Xu W, Graham EM et. al.

Mar 8th, 2023 - Synpolydactyly is a rare congenital anomaly characterized by syndactyly and polydactyly in the central hand. Limited treatment guidelines exist for this complex condition. A retrospective review of synpolydactyly patients was conducted at a large,...

FREM2-related Fraser syndrome with popliteal pterygium and structural central nervous s...
European Journal of Medical Genetics; Turgut GT, Sarac Sivrikoz T et. al.

Feb 1st, 2023 - Fraser syndrome (FS) is a rare multiple malformation disorder characterized by cryptophthalmos, characteristic craniofacial dysmorphism, cutaneous syndactyly, malformations of the respiratory and urinary tract, and anogenital anomalies. Although t...

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syn...
European Journal of Medical Genetics; Abdelrazek IM, Holling T et. al.

Jan 29th, 2023 - Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1; OMIM#213980) is a rare autosomal recessive disorder characterized by the clinical triad of developmental delay and/or intellectual disability, ...

Pedicled palmar intermetacarpal perforator flap for skin-graftless syndactyly release: ...
Microsurgery Soldado F, Garcia-Martinez MC et. al.

Jan 13th, 2023 - Dorsal hand skin flaps have been described in order to avoid digit skin grafting in syndactyly release. Although these skin-graftless techniques present a lower rate of long term complications, they result in unsightly dorsal scarring and worse pa...

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Clinicaltrials.gov  8 results

Comparison of Scar Formation in Syndactyly Release Surgery With Full Thickness Skin Graft Versus Skin Graft Substitute

Nov 21st, 2022 - Background/Significance: Syndactyly is a congenital condition where children are born with webbing between their fingers. Syndactyly is the most common congenital hand condition in Caucasian children. Treatment for syndactyly is a syndactyly separ...

Study of Selected X-linked Disorders: Goltz Syndrome

Mar 9th, 2022 - Goltz syndrome or Focal Dermal Hypoplasia (FDH) is an X-linked dominant neurodevelopmental disorder. The primary features of FDH include areas of hypoplastic skin (atrophy, linear pigmentation and herniation of fat through dermal defects), digital...

Syndactyly Repair: Comparison of Skin Graft and No Skin Graft Techniques

Aug 20th, 2019 - Syndactyly is a relatively common congenital abnormality of the hand occurring approximately 1 out of 2500 live births (1). It can be simple, meaning only skin and soft tissues are shared, or complex, meaning the bone or nail parts are shared. In ...

Trial To Assess Efficacy Of A Chimeric Skin In Patients With Epidermolysys Bullosa

Aug 1st, 2019 - Reconstruction of interdigital commisures in patients with severe skin syndactyly using laminar grafts that will be uniformly and systematically taken with an electrical or compressed air dermatome on an aseptic area and with the same extent and d...

Syndactyly Versus Closed Reduction in 5th Metacarpal Neck Fracture

Feb 27th, 2019 - Syndactyly, although limiting the activity of the patient, allows a quick mobilization and recovery, as well as a better management in daily activities compared with immobilization with splint. In addition, follow-up of these fractures is difficul...

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News  8 results

Previously Unexplained Birth Defects Rooted in Genetic Mutations

Sep 29th, 2021 - A mutation in the WLS gene causes Zaki syndrome, a newly identified disorder characterized by multiorgan birth defects such as microcephaly, foot syndactyly, and heart defects -- suggesting a potential target for treatment. Homozygous mutations in...

First Trimester Use of Macrolide Antibiotics and Risk of Congenital Anomaly

Feb 2nd, 2021 - Takeaway First trimester use of macrolide antibiotics (mainly erythromycin, spiramycin, clarithromycin and azithromycin) was not associated with an increased risk of congenital heart defects (CHDs) as a whole. Erythromycin, clarithromycin and azit...

Congenital Defect of the Toenail
Daniel W. Cole, MD, Tomas Huerta, MD et. al.

Sep 29th, 2020 - The Diagnosis: Onychodystrophy Secondary to Polydactyly Radiographs of the feet demonstrated an accessory distal phalanx of the left great toe with a similar smaller accessory distal phalanx on the right great toe (Figure). The patient was referre.

Plantar Ulcerative Lichen Planus: Rapid Improvement With a Novel Triple-Therapy Approach
Prasanthi Kandula, MD, Raven Elosiebo, MD et. al.

Aug 2nd, 2018 - Ulcerative lichen planus (ULP)(also called erosive) is a rare variant of lichen planus. Similar to classic lichen planus, the cause of ULP is largely unknown.

The Baby Who Never Smiles

Apr 3rd, 2014 - Discussion This patient's presentation is consistent with Moebius (or Möbius) syndrome. Moebius syndrome is a rare congenital condition that was first described by German neurologist Paul Julius Möbius. The current definition varies among investig...

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Patient Education  4 results see all →