Browse
Submit Data
Databases
API
Help

Dataset Information

16 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Characteristics of Congenital Clasped Thumb: A Case Report and Literature Review.

ABSTRACT: Congenital clasped thumb is a progressive flexion and adduction deformity presenting with heterogeneous congenital abnormalities and syndromes. This deformity is usually accompanied by first web space narrowing and metacarpophalangeal joint (MPJ) laxity. Understanding the various features of the clasped thumb and making an accurate diagnosis is essential for treatment. Depending on the classification, treatment can vary from conservative to surgical. We describe the case of a bilateral clasped thumb with various characteristics, which were treated differently according to the disease type. The deformity of the clasped thumb was bilateral, and the patient had MPJ flexion deformity, flexor pollicis longus shortening, first web space narrowing, and MPJ instability, which were confirmed through a stress test. The left thumb was a complex type and was surgically treated, whereas, the right thumb was a flexible type, which was treated with splinting; the treatment showed promising results at 2 years post surgery. Diagnosis of the clasped thumb through thorough history taking, physical examination and considering its characteristics, and appropriate classification of the disease is essential for treatment. Furthermore, a stress test can identify MPJ instability in the congenital clasped thumb.

SUBMITTER: Kim S

PROVIDER: S-EPMC8316600 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Similar Datasets

Congenital absence of flexor pollicis longus tendon without associated anomalies of thumb hypoplasia: a case report and review of the literature.

Project description:In this paper, we report a case of a 14-year-old girl with congenital aplasia of the flexor pollicis longus tendon who had no other associated anomalies of thumb hypoplasia and no trauma history. Flexor pollicis longus tendon anomalies are rare; several types of this congenital anomaly have been reported in the literature. The diagnosis should be considered if a patient is unable to flex the interphalangeal joint of the thumb. A hypoplastic thumb or an absent interphalangeal joint crease may be a diagnostic feature in such cases. Besides physical examination, we also used direct radiography and magnetic resonance imaging to diagnose this rare congenital anomaly in our patient.

| S-EPMC2527226 | biostudies-other

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.

Project description:Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report a fetus with ultrasound alterations detected at 28 weeks of gestation. The fetus exhibited hydrops, short long bones, fixed limb joints, absent fetal movements, and polyhydramnios. The pregnancy was terminated and postmortem studies confirmed the prenatal findings: distal arthrogryposis, fetal growth restriction, pulmonary hypoplasia, and retrognathia. The fetus had a normal chromosomal microarray analysis. Exome sequencing revealed two novel compound heterozygous variants in the GLDN associated with LCCS11. This manuscript reports this case and performs a literature review of all published LCCS11 cases.

| S-EPMC9267849 | biostudies-literature

Clinicopathological characteristics of costal hemangiomas: a case report and literature review.

Project description:Bone hemangioma accounts for approximately 1% of all bone neoplasms and commonly occurs in the vertebral body and skull. However, costal hemangiomas are extremely rare. We herein present a case involving a 52-year-old woman with a hemangioma in the third rib and review 29 cases of rib hemangiomas available in the literature. Rib hemangioma mainly affects women in their 50s and has expansile osteolytic features in radiographs and a weak maximum standardized uptake value in 18F-fluorodeoxyglucose positron emission tomography images. When these findings are displayed, clinicians should include rib hemangioma as a differential diagnosis and consider avoidance of preoperative biopsy because of the risk of life-threatening bleeding.

| S-EPMC6381469 | biostudies-literature

Congenital left atrial appendage aneurysm: A rare case report and literature review.

Project description:Left atrial appendage aneurysms (LAAA) are rare. Patients with LAAA are often diagnosed incidentally or after cardiac tachyarrhythmia or systemic thromboembolism happen. Early diagnosis and surgical resection is of utmost importance to prevent hazardous adverse events.We present a case of 46-year-old man with congenital LAAA. The individual in this manuscript has given written informed consent to publish these case details.Imaging studies, such as echocardiography, cardiovascular computed tomography (CT) and magnetic resonance imaging (MRI), demonstrated the large cavity arising from the left atrial appendage. The diagnosis of LAAA was confirmed.The patient underwent an aneurysmectomy without any complications.TTE confirmed the disappearance of the LAAA from the left parasternal short-axis view of the aortic root postoperatively. The patient remained asymptomatic without any adverse events at his 3-month follow-up visits.The associated high risk of life-threatening complications and the relative ease of surgical removal suggest that prompt evaluation should be considered in patients with lesions adjacent to the left heart border.

| S-EPMC5943883 | biostudies-other

ALK-TPM3 rearrangement in adult renal cell carcinoma: report of a novel case showing misleading TFE3 expression and loss of chromosome 3 and literature review

Project description:We report a case of a 55 years old women who present a ALK associated renal cell carcinoma, with 3p deletion and measling of TFE3 expression. With CGH analysis and FISH we identify the rearrangment of ALK with TPM3

2017-03-24 | GSE96980 | GEO

Nonarterialized venous replantation of part of amputated thumb-a case report and review of the literature.

Project description:Since the first successful replantation of a human thumb reported by Komatsu and Tamai in 1968, thousands of severed digits and body parts have been successfully salvaged. Restoration of anatomic form and function are the goals of replantation after traumatic tissue amputation. Regardless of anatomic location, methods include microsurgical replantation and nonmicrosurgical replantation, such as composite graft techniques. Numerous techniques to maximize tissue survival after revascularization have been described, including "pocket procedures" to salvage composite grafts, interposition vein grafts, and medicinal leeches to name a few. Artery-to-venous anastomoses have been performed with successful "arterialization" of the distal venous system in fingertip replantation. Although there is documented survival of free venous cutaneous flaps, to our knowledge this is the first report of a replanted composite body part (bone, tendon, soft tissues, and skin) utilizing exclusively multiple, microvascular, nonarterialized venous-venous anastomoses. We present a patient with an isolated band saw fillet amputation to the back of the thumb at the metacarpal-phalangeal joint region, resulting in a composite graft composed of bone, tendon, soft tissue, and skin. The hand wound provided no viable regional arterial inflow source, but there were multiple good caliber superficial veins present. The amputated tissues were replanted and revascularized by using only venous blood flow. The replanted part survival was 100% with excellent function of the digit. We conclude that a hand composite body part involving bone, tendon, soft tissues, and skin can survive replantation with a strict venous blood supply if sufficient good caliber, microvascular, venous-venous anastomoses are performed, granted that arterial inflow options are not available. This is an isolated case, yet introduces a new way of thinking regarding tissue replantation.

| S-EPMC2526026 | biostudies-other

Congenital hypotrichosis, eruptive milia, and palmoplantar pits: a case report with review of literature.

Project description:We report a ten-month-old male infant, presenting with congenital hypotrichosis of scalp, absence of eyebrows and eyelashes. He also had multiple milia over face and extremities along with palmoplantar pits. The infant was born to third degree consanguineous marriage. None of the family members had similar disease. Histopathology was consistent with milia. Based on these findings, a diagnosis of unclassified ectodermal dysplasia was made.

| S-EPMC3358937 | biostudies-literature

Congenital combined eyelid imbrication and floppy eyelid syndrome: case report and review of literature.

Project description:Congenital eyelid imbrication syndrome (CEIS) is an extremely rare, benign, transient, self-limiting eyelid malposition disorder. The classic triad of signs in patients with a CEIS consists of bilateral upper eyelids overriding the lower eyelids when child was in sleep, bilateral medial and lateral canthal tendon laxity and tarsal conjunctival hyperemia. We report a third case of congenital combined eyelid imbrication and floppy eyelid syndrome in healthy neonate that was resolved within a week with conservative treatment.

| S-EPMC3853460 | biostudies-literature

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.

Project description:One of the recently described syndromes emerging from the massive study of cohorts of undiagnosed patients with autism spectrum disorders (ASD) and syndromic intellectual disability (ID) is White-Sutton syndrome (WHSUS) (MIM #616364), caused by variants in the POGZ gene (MIM *614787), located on the long arm of chromosome 1 (1q21.3). So far, more than 50 individuals have been reported worldwide, although phenotypic features and natural history have not been exhaustively characterized yet. The phenotypic spectrum of the WHSUS is broad and includes moderate to severe ID, microcephaly, variable cerebral malformations, short stature, brachydactyly, visual abnormalities, sensorineural hearing loss, hypotonia, sleep difficulties, autistic features, self-injurious behaviour, feeding difficulties, gastroesophageal reflux, and other less frequent features. Here, we report the case of a girl with microcephaly, brain malformations, developmental delay (DD), peripheral polyneuropathy, and adducted thumb-a remarkable clinical feature in the first years of life-and heterozygous for a previously unreported, de novo splicing variant in POGZ. This report contributes to strengthen and expand the knowledge of the clinical spectrum of WHSUS, pointing out the importance of less frequent clinical signs as diagnostic handles in suspecting this condition.

| S-EPMC8303405 | biostudies-literature

A rare case of idiopathic congenital megaduodenum in adult misinterpreted during childhood: case report and literature review.

Project description:Intestinal malformations are common disorders in newborn and favorable outcomes have been reported for such conditions. Although, if the patient is treated in a not experienced center, misinterpretation of the clinical and radiological findings may lead to errors in treatment and possible complications in adulthood. We report a case of a congenital megaduodenum which was misinterpreted as an intestinal malrotation resulting in late complications. The patient underwent a successful surgical resection of the duodenum with improvement of his clinical symptoms and nutritional status. This case report emphasizes the importance of considering megaduodenum in the differential diagnosis of patients with feeding impairment, even during adulthood. Early diagnosis and treatment may improve patients' outcome and reduce morbidity.

| S-EPMC6514750 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data