A new family with syndactyly type II or synpolydactyly is described with 16 affected members in six generations. No other major skeletal or extraskeletal malformations were present, but the association with minor local anomalies may be a common feature. Various metacarpal or metatarsal abnormalities may be part of this type of syndactyly. The family pedigree confirms the autosomal dominant mode...

Tissue expanders can be used over the dorsum of hand and fingers to increase available tissue for flap coverage after release of syndactyly. Herein, we presented an 18-year-old man who had an unusual complex syndactyly in the middle and ring fingers of his right hand. He had also complete fusion of the proximal phalanges. In this report, we described the application of tissue expander to cover ...

Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation. We report on a child with Filippi syndrome who shows syndactyly of fingers, severe postnatal growth retardation, postnatal microcephaly, and moderate to...

Harlequin ichthyosis (HI) is a rare congenital disease that primarily affects the skin. Its complications include syndactyly, which can cause severe constriction. Surgical release thought to be helpful, but details remain unclear due lack of data. We share our 5-year experience patient with HI successful outcomes from five syndactyly operations involving division, local flap interposition, and ...

Apert syndrome is a rare which presents with craniosynostosis, severe syndactyly, and dysmorphic facial features. It mainly caused by new mutation in fibroblast growth factor receptor-2 gene. Up-regulation of this gene results bone fusion nuclear deficiency the transcription FoxO1 key pathogenesis acne. We present herein 19-year-old man nodulocystic acne associated acrocephaly, prominent forehe...

BACKGROUND Correction of digit deformities at or near the Joints is performed easily ; however, maintaining the result is often difficult either due to noncompliance of the patient to wear the postoperative splints or problems related to unequal growth of bones or normal tissues compared to the scarred or operated side. OBJECTIVES The aim of this study was to overcome the above mentioned prob...

Bandoh reported the 3-square-flap method as a procedure for interdigital space reconstruction in patients with minor syndactyly. We recently modified this flap design so that it could be used in the treatment of toe syndactyly involving fusion of the areas distal to the proximal interphalangeal joint. With our method, the reconstructed interdigital space consists of 4 oblong flaps (A through D)...

Two inherent challenges in the mechanistic interpretation of protease-deficient phenotypes are defining specific substrate cleavages whose reduction generates and determining whether result from loss function, accumulation, or a function(s) embodied fragments. Hence, recapitulation phenotype by cleavage-resistant would stringently validate importance proteolytic event clarify underlying mechani...