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ALLMedicine™ Syndactyly Center

Research & Reviews  363 results

Deciphering complex rearrangements at the breakpoint of an apparently balanced reciproc...
American Journal of Medical Genetics. Part A; Yamada M, Suzuki H et. al.

May 15th, 2022 - When a de novo balanced reciprocal translocation is identified in patients with multiple congenital abnormalities, attempts are often made to infer the relationship between the phenotype of the patient and genes in the proximity of the breakpoint....

Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.
Orphanet Journal of Rare Diseases; Cassim A, Hettiarachchi D et. al.

May 14th, 2022 - The formation of the digits is a tightly regulated process. During embryogenesis, disturbance of genetic pathways in limb development could result in syndactyly; a common congenital malformation consisting of webbing in adjacent digits. Currently,...

Reliability and validity of Vancouver Scar Scale and Withey score after syndactyly rele...
Journal of Pediatric Orthopedics. Part B; Kim JK, Park JY et. al.

May 4th, 2022 - This study aimed to analyze the reliability and validity of the Vancouver Scar Scale (VSS) and the Withey score after syndactyly release. Over a 3-year period, 13 patients who underwent syndactyly release were evaluated. The mean age at the time o...

Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations.
European Journal of Medical Genetics; Schuart C, Bassi A et. al.

Mar 31st, 2022 - Cutis marmorata telangiectatica congenita (CMTC) is characterized by coarse-meshed capillary malformations arranged in asymmetrically distributed patches. The disorder may be associated with hyper- or hypoplastic limbs, syndactyly, cleft palate, a...

Inner Ear Anomalies in Children with Apert Syndrome: A Radiological and Audiological An...
The Journal of Craniofacial Surgery; Hogg ES, Turgut NF et. al.

Mar 12th, 2022 - Apert syndrome is a multisystem genetic disorder typically characterized by craniosynostosis and syndactyly. Studies also report an increased incidence of hearing loss in children with Apert syndrome in comparison to the general population. The ai...

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News  6 results

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.

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...

Fluconazole Linked to Increased Risk for Rare Birth Defect

Aug 28th, 2013 - An examination of nearly 1 million birth records revealed a 3-fold increased risk for tetralogy of Fallot among infants whose mothers took fluconazole in the first trimester, according to a study published in the August 29 issue of the New England...

Maternal Smoking Linked to Congenital Digit Anomalies

Jan 9th, 2006 - Action Points Remind patients, especially patients who are pregnant or are interesting in becoming pregnant, about this new danger of smoking. This study found a dose-response relationship between maternal smoking and an increased risk for webbed ...

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