INtROdUCtION: Congenital syndactyly occurs in isolated and syndromic forms; method of reconstruction must be tailored to the type of syndactyly and postoperative function will depend on the preoperative state of the hand in addition to the method of reconstruction selected. We present the 18 year experience of surgical reconstruction of congenital syndactyly in all of its forms at a high throug...

Ellis-Van Creveld syndrome is a very rare congenital disorder which its principal features are polysyndactyly, chondrodysplasia, cardiac abnormalities and ectodermal dysplasia. We report a 10-year-old girl with major manifestations of this syndrome who also had multiple brownish macules and patches on trunk and extremities with aortic and pulmonary stenosis in echocardiographic evaluations.

We report on a newborn girl with syndactyly type IV, hexadactyly of feet, and right tibial hemimelia. She has 5 other relatives with identical anomalies of the hands and feet transmitted as an autosomal dominant trait. Syndactyly type IV is rare as is absence of the tibia. We suggest the possibility that syndactyly type IV may be a more complex entity, including lower limb malformations, and tr...

INtROdUCtION: Congenital syndactyly occurs in isolated and syndromic forms; method of reconstruction must be tailored to the type of syndactyly and postoperative function will depend on the preoperative state of the hand in addition to the method of reconstruction selected. We present the 18 year experience of surgical reconstruction of congenital syndactyly in all of its forms at a high throug...

Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe mesoaxial syndactyly and synostosis in patients born to affected parents. The characteristic features of these severe cases are (1) complete syndactyly and synostosis of the th...

OBJECTIVE To assess and report clinical data from patients with syndactyly. METHODS A retrospective review of 47 patients treated between April 2002 and April 2012. RESULTS Among the 47 analyzed patients, 33 (70%) were male and 14 (30%) female. The total number of syndactylies was 116. The right hand was affected in 19 patients (40%), the left hand in 12 (24%) and 31 (36%) were bilaterally ...

The presence of 2 distinct populations of somatic or germline cells within a single individual harboring different genotypes is termed mosaicism. Recent reports suggest that parental mosaicism is involved in the heritability of type 1 Timothy syndrome (TS1), an extremely rare and life-threatening multisystem disorder characterized by severe QT interval prolongation, syndactyly, and several othe...

Apert syndrome (AS) is a rare type of congenital craniofacial dysmorphic and severe syndactyly the hands feet. Fibroblast growth factor receptor (FGFR) gene mutations are suspect to be involved in this anomaly. The distinct features craniosynostosis-a condition premature closure skull's sutures-, midface hypoplasia-an incomplete development middle face-, syndactyly-webbed fingers or toes-. anor...