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Page 1
Toe syndactyly revisited.
Marsh DJ, Floyd D. Marsh DJ, et al. J Plast Reconstr Aesthet Surg. 2011 Apr;64(4):535-40. doi: 10.1016/j.bjps.2010.07.016. Epub 2010 Aug 14. J Plast Reconstr Aesthet Surg. 2011. PMID: 20708986
INTRODUCTION: Toe syndactyly affects around 1/2000 people and is associated with significant psychological morbidity. There are multiple techniques of toe syndactyly repair described in the literature which is indicative that as yet, no one method has …
INTRODUCTION: Toe syndactyly affects around 1/2000 people and is associated with significant psychological morbidity. There ar …
Clinical and genetic approach in the characterization of newborns with anorectal malformation.
Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G. Schierz IAM, et al. J Matern Fetal Neonatal Med. 2022 Dec;35(23):4513-4520. doi: 10.1080/14767058.2020.1854213. Epub 2020 Dec 1. J Matern Fetal Neonatal Med. 2022. PMID: 36062518
OBJECTIVE: This study aimed to investigate clinical, surgical, and genetic data of neonates with anorectal malformation (ARM). STUDY DESIGN: A retrospective observational study was conducted on neonates with ARM as an isolated type (group 1), with 2 (group 2), and with 3 a …
OBJECTIVE: This study aimed to investigate clinical, surgical, and genetic data of neonates with anorectal malformation (ARM). STUDY DESIGN: …
Surgical treatment in child's congenital toe syndactyly: Risk factor of recurrence, complication and poor clinical outcomes.
Langlais T, Rougereau G, Marty-Diloy T, Bachy M, Barret H, Vialle R, Fitoussi F. Langlais T, et al. Foot Ankle Surg. 2022 Jan;28(1):107-113. doi: 10.1016/j.fas.2021.02.006. Epub 2021 Feb 19. Foot Ankle Surg. 2022. PMID: 33642221
INTRODUCTION: Surgical treatment of toe syndactyly remains controversial. The strong demand from parents for a cosmetic release is increasing in our societies. ...African ethnicity (N = 15) represents a risk factor (N = 4/15; OD = 0.12[0.009;0.97];p = 0.02) for kelo …
INTRODUCTION: Surgical treatment of toe syndactyly remains controversial. The strong demand from parents for a cosmetic releas …
The Dubowitz syndrome: further observations.
Orrison WW, Schnitzler ER, Chun RW. Orrison WW, et al. Am J Med Genet. 1980;7(2):155-70. doi: 10.1002/ajmg.1320070209. Am J Med Genet. 1980. PMID: 6258433 Review.
An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal retardation, microcephaly, sparse hair, toe syndactyly, and characteristic facial appearance is now recognized as the Dubowitz syndrome. ...
An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal retardation, microcephaly, sparse hair, toe …
Linear Separation of Toe Syndactyly With Preserved Subcutaneous Vascular Network Skin Grafts.
Aizawa T, Togashi S, Haga Y, Nakayama Y, Sekido M, Kiyosawa T. Aizawa T, et al. Ann Plast Surg. 2017 Mar;78(3):311-314. doi: 10.1097/SAP.0000000000000864. Ann Plast Surg. 2017. PMID: 27404473
BACKGROUND: Conventional surgery of toe syndactyly is accomplished using a zig-zag incision and full thickness or split thickness skin grafting. ...All cases were treated using the same method: linear skin incisions to divide the digits, triangular flaps on the dors …
BACKGROUND: Conventional surgery of toe syndactyly is accomplished using a zig-zag incision and full thickness or split thickn …
Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31.
Malik S, Schott J, Ali SW, Oeffner F, Amin-ud-Din M, Ahmad W, Grzeschik KH, Koch MC. Malik S, et al. Eur J Hum Genet. 2005 Dec;13(12):1268-74. doi: 10.1038/sj.ejhg.5201492. Eur J Hum Genet. 2005. PMID: 16189548
Here, we present clinical and molecular data of a large Pakistani family with zygodactyly that was mapped to a new locus on chromosome 3p21.31 by genome-wide linkage analysis. The highest LOD score (Zmax=3.38) was obtained with microsatellite marker D3S2409. ...Since the s …
Here, we present clinical and molecular data of a large Pakistani family with zygodactyly that was mapped to a new locus on chromosome 3p21. …
Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect.
Yamada M, Suzuki H, Miya F, Takenouchi T, Kosaki K. Yamada M, et al. Am J Med Genet A. 2022 Aug;188(8):2472-2478. doi: 10.1002/ajmg.a.62777. Epub 2022 May 14. Am J Med Genet A. 2022. PMID: 35567499
Second, the deleted interval at 2q31 included the entire HOXD cluster, the deletion of which is known to cause toe syndactyly, and the DLX1 and DLX2 loci, which are responsible for cleft lip and palate. ...The results of the present analysis suggest the possibility …
Second, the deleted interval at 2q31 included the entire HOXD cluster, the deletion of which is known to cause toe syndactyly, …
Normative data for anthropometric parameters used in delineation of dysmorphic features in north Indian children.
Kapoor S, Bhuhsan S, Ghosh VB, Pandey RM, Kalaivani M. Kapoor S, et al. Indian J Pediatr. 2012 May;79(5):619-31. doi: 10.1007/s12098-011-0572-0. Epub 2011 Nov 9. Indian J Pediatr. 2012. PMID: 22069166
RESULTS: No statistically significant differences between male and female infants were observed. Significant differences were observed from other south east Asian and Caucasian population stressing the need for generation of regional ethnic data. The percentage of o …
RESULTS: No statistically significant differences between male and female infants were observed. Significant differences were obse …
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.
Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ. Goodman FR, et al. Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7458-63. doi: 10.1073/pnas.94.14.7458. Proc Natl Acad Sci U S A. 1997. PMID: 9207113 Free PMC article.
Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation. Typical cases have 3/4 finger and 4/5 toe syndactyly, with a duplicated digit in the syndactylous web, but incomplete penetrance and variable expressivity are common. ...We have studied 16 …
Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation. Typical cases have 3/4 finger and 4/5 toe syndactyly …
Parental consanguinity in specific types of congenital anomalies.
Rittler M, Liascovich R, López-Camelo J, Castilla EE. Rittler M, et al. Am J Med Genet. 2001 Jul 22;102(1):36-43. doi: 10.1002/1096-8628(20010722)102:1<36::aid-ajmg1394>3.0.co;2-m. Am J Med Genet. 2001. PMID: 11471170
Pre-occurrence rates for the same congenital anomaly in sibships of consanguineous and non-consanguineous cases were compared. A significant association with parental consanguinity was observed for three congenital anomaly types: hydrocephalus, postaxial hand polydactyly, …
Pre-occurrence rates for the same congenital anomaly in sibships of consanguineous and non-consanguineous cases were compared. A significant …
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