No abstract available.
Syndactyly*

Apert syndrome is a rare disorder characterized by malformation of the skull, (usually oxyce-phaly or acrocephaly), in association with sys temic syndactyly It is due to congenital disturbance in the growth of bone and soft tissue affecting principally the head, the hands and the feet. The original description was presented by Troquart in 1886. Since then, more than 200cases have been reported in the world up to 1970. Recently we have seena patient with typical Apert Syndrome and report it here with a brief eviewr of the relevant literature.
Acrocephalosyndactylia ; Foot ; Hand ; Head ; Humans ; Skull ; Syndactyly

Apert described acrocephalosyndactly as a clinical entity in 1906. The classic description of this syndrome includes patient with a combination of acrocephaly and syndactyly of either fingers, toes or both. More than 200 cases have been reported in the world literature. Authors experienced on case of the classic pattern of Apert syndrome and treated surgically for syndactyly. This one case was reported on this paper with brief review of the relevant literatures.
Acrocephalosyndactylia ; Craniosynostoses ; Fingers ; Humans ; Syndactyly ; Toes

Apert syndrome, or acrocephalosyndactyly is a complex of associated malformations, which are craniosynostosis and symmetric complex syndactyly of the hands and feet. The syndrome was first described by Apert in 1906. Review of the worlds literature disclosed about 200 similar cases and 9 Cases in Korea. Authors experienced one case of Apert syndrome and treated surgically for acro-syndactyly and polydactyly of both hands and feet. The case was compared with the other previously reported cases in Korea.
Acrocephalosyndactylia ; Craniosynostoses ; Foot ; Hand ; Korea ; Polydactyly ; Syndactyly

The combined congenital malformation of partiaI or complete absence of the pectoralis main muscle and webbing of the fingers, on the same side, was first described by Poland in 1841. The syndrome is not hereditary and is of unknown origin and is affects male more frequently than female. The clinical features are variable but always include congenital aplasia of the stemorostal head of the pectoralls major muscle and syndactyly. The syndectely should be treated by the age of one year and complened before the preschool age. A case of Poland's syndrome is presented with a brief review of literatures.
Female ; Fingers ; Head ; Humans ; Male ; Poland Syndrome ; Poland ; Syndactyly

Apert syndrome is well known condition with craniosynostosis, midface hypoplasia, exorbitism, and typical symmetric syndactyly of hands and feet. Surgical correction method should be selected according to the type and the severity of the deformity and the patient's age. We have experienced an adult atypical Apert syndrome patient who has brachycephaly and midface hypoplasia, without exorbitism, and has limb deformities such as brachymetatarsia and ectrodactyly without syndactyly of hands and feet, which are not typical in Apert syndrome patients. For the simultaneous correction of the cranial vault and the facial deformities, we combined Le Fort II advancement osteotomy and advancement genioplasty as well as transposition cranioplasty at the same time, and obtained successful result. Through our limited experience, we concluded our modified combined methods could be safely applied to the adult patients with various types of craniofacial deformity.
Acrocephalosyndactylia* ; Adult ; Congenital Abnormalities ; Craniosynostoses ; Extremities ; Foot ; Genioplasty ; Hand ; Humans ; Osteotomy ; Surgery, Oral* ; Syndactyly

Apert syndrome is a rare congenital anomaly characterized by craniofacial malformations and severe symmetrical syndactyly of fingers and toes. This syndrome is caused by a genetic mutation; the S253 mutation is common, though the P253R mutation is not as frequent. Common symptoms include skeletal malformations, poor joint mobility, eye and ear problems, cleft palate, and orthodontic and other dental problems. We report a case of an infant with the common morphological features of Apert syndrome. Interestingly, she was found to have the P253R mutation in FGFR2 exon VIII, which has been less commonly observed in Korea. A brief review of the literature is included.
Acrocephalosyndactylia ; Cleft Palate ; Ear ; Exons ; Eye ; Fingers ; Humans ; Infant ; Joints ; Korea ; Syndactyly ; Toes

Pfeiffer syndrome is one of a rare form of craniosynostosis syndrome, showing variable degree of craniosynostosis, midface hypoplasia, broad thumbs and toes and syndactyly. This is transmitted in autosomal dominant pattern and known to be related to mutations in FGFR (Fibroblast Growth Factor Receptor) 1 or FGFR 2. We experience a case of newborn Pfeiffer syndrome type 3 who had multiple facial anomalies, thumbs and great toes anomalies, ankylosis of radius and ulnar and hydrocephalus.
Acrocephalosyndactylia* ; Ankylosis ; Craniosynostoses ; Humans ; Hydrocephalus* ; Infant, Newborn ; Radius ; Syndactyly ; Thumb ; Toes

Apert syndrome is an uncommon, congenital disorder characterised by malformation of the skull, most often acrocephaly or oxycephaly, in association with symmetrical syndactyly of both hands and feet. It is due to disturbance in the growth of bone and soft tissue affecting principally the head, the hands and the feet. The original description was presented by Troquart in 1886, and acrocephaloyndactyly was named by Apert in 1906. Since then, more than 200 cases have been reported in the world upto 1970. Recently, we have experienced three for typical Apert syndrome and made a brief related literature review
Acrocephalosyndactylia* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Craniosynostoses ; Foot ; Hand ; Head ; Skull ; Syndactyly

PURPOSE: The key of treatment in syndactyly is to separate the fused digits safely, and to create a normal web space with enough cutaneous coverage. Despite many techniques have described the correction of syndactyly, skin graft still remains the annoying one. We designed the pentagonal flap from hand dorsum to reconstruct the web space reliably and try to minimize the need for skin graft. METHODS: Between July 2003 and August 2005, six cases of syndactyly were corrected at UCLA Medical Center and Hallym University Sacred Heart Hospital using dorsal pentagonal flap for web space reconstruction and straight incisions for the sides of digits to minimize the need for skin graft. The proximal edge of the pentagonal flap was designed in V shape to allow for easy closure of the donor site after advancement. The pentagonal flap was advanced volarly with the underlying dermofat tissues to form a digital web. In some cases, skin defects were unavoidable and covered with full thickness skin graft from the inguinal area. RESULTS: Syndactyly were seen in 4 cases of Apert syndrome, 1 postburn scar webbing with PIP joint contracture and 1 recurrence after the incomplete reconstruction. In all Apert syndrome, straight line incision was used along the sides of the fingers and skin graft was needed. But, in 2 cases of incomplete type, we could save the need for skin graft only for the correction of syndactyly. We could get a good looking web space without any complications such as flap or graft loss. CONCLUSION: As a modification of Sherif's V-Y dorsal metacarpal flap, we believe pentagonal flap could be one of the easiest and safest way to reconstruct the web space of syndactyly in functional and cosmetic standpoint.
Acrocephalosyndactylia ; Cicatrix ; Contracture ; Fingers ; Hand ; Heart ; Humans ; Joints ; Recurrence ; Skin* ; Syndactyly* ; Tissue Donors ; Transplants*