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At least 613 records · Page 34Linked to original sources
PubMed1981

Congenital central ray deficiency in the hand- a survey of 59 cases and subclassification.

Eighty-nine hands were studied in 59 patients with central ray deficiency. A subclassification into two subgroups was established based on the clinical and radiological findings-subgroup I: typical type and subgroup II: (atypical type) with type a, syndactylous type, and type b, polydactylous type. In subgroup I, the sequential severity of deficiency ranged from a partial defect of phalanges of the middle finger to a monodigit hand. The central digital elements were fused to adjacent digital rays in subgroup II-type a. Supernumerary bony elements were seen in subgroup II-type b. The close relationship between central ray deficiency, syndactyly, and polydactyly was discussed from the standpoint of development of the hand. The classification of central ray deficiency into the longitudinal deficiency category of the International Classification of Congenital Limb Malformations was recommended.

Congenital Abnormalities↗
PubMed1982

Congenital anomalies of the upper limb among the Chinese population in Hong Kong.

Three hundred twenty-six patients with 396 congenital upper limb anomalies are classified according to the system adopted by the International Federation of Societies for Surgery of the Hands. The relative incidence of each separate anomaly is listed and compared with that of other series. Two hundred cases are also analyzed with respect to the family history, pregnancy history, neonatal history, and associated anomalies and the results are discussed. Significant racial differences were found in the incidence of polydactyly, syndactyly, anomalies associated with syndromes, and transverse arrests. The incidence of polydactyly is higher in this series than in comparable western series.

Arm↗
PubMed1984

Congenital constriction band syndrome.

Fifty-five patients, 28 male and 27 female, with congenital constriction band syndrome were reviewed. There were no remarkable abnormalities in the family or neonatal history except 10 out of 35 mothers had colds in early pregnancy and nine had threatened maternal bleeding. Metacarpal length is usually normal in the constricting ring syndrome, but short in the failure of formation defect. There are, however, a small number of patients who have the same features of both congenital hand anomalies. Surgical procedures for constriction ring, fenestrated syndactyly, webbing of the digits, and amputated digits are discussed.

Bone Lengthening↗
PubMed1985

Tissue expansion in reconstructive hand surgery: case report.

A 22-year-old musician requested the correction of his digital syndactyly deformity without the use of skin grafts. Failure of the original correction to heal primarily resulted in the formation of dense scar tissue. A small, custom-designed tissue expander was inserted within the web space and was slowly expanded. The additional expanded tissue permitted reconstruction of the web space and the sides of the fingers without the use of skin grafts.

Adult↗
PubMed1988

A family with complex bilateral polysyndacty.

A six-generation family with 88 members is described. A curious combination of polydactyly, syndactyly, and triphalangeal malformed thumbs affected about 30% of the members. It is believed that this congenital hand deformity only occurs in an hereditary form.

Female↗
PubMed1997

Classification of ulnar deficiency according to the thumb and first web.

Fifty-five ulnar-deficient upper extremities in 45 patients treated at the St. Louis Shriner's Hospital were reviewed in order to evaluate the hand abnormalities. Thumb and first-web abnormalities were noted in 73% of hands. The majority of operations (28 of 53) were recommended to improve functional deficits associated with abnormalities of the thumb and first web. A classification of the ulnar-deficient hand based upon the characteristics of the thumb and first web is presented. When used in combination with any of the six current forearm/elbow classification schemes, this classification more completely describes ulnar deficiency of the upper extremity. Four classification types are proposed based upon progressive involvement of the thumb and first web. In type A, the thumb and first web are normal; in type B, the first web space has mild deficiency and the thumb has mild involvement. Extrinsic tendon function is intact and opposition function is present. In type C, the thumb has varying degrees of involvement. The first web has moderate to severe deficiency, including thumb-index syndactyly, and is often associated with malrotation of the thumb into the plane of the other digits, loss of opposition, and dysfunction of the extrinsic tendons. In type D, the thumb is absent. Previous classifications of ulnar deficiency neglect the radial hand anomalies that have been noted by several authors in a high percentage of affected extremities. Our premise for this classification is that the thumb and first-web abnormalities are related to the complexity of the hand problem and that the frequently noted radial hand abnormalities require the majority of surgical procedures. Such a classification based on the thumb and first-web deformities will focus the surgeon's attention on those deficiencies that are most important for the restoration of function. It is proposed that ulnar deficiency be classified by one of the classification schemes that describes the anatomy of the forearm and/or elbow supplemented by the hand classification type.

Elbow Joint↗
PubMed1997

Two-stage reconstruction of apert acrosyndactyly.

This report retrospectively reviews presenting radiographs and surgical treatment of 28 hands in 14 children with Apert acrosyndactyly with the purpose of developing a classification system to describe the decision-making process used to determine the type and staging of hand reconstruction. The average patient age at last follow-up evaluation was 7 years (range, 3-17 years). Type I deformities (7 hands) had little or no angular deformity at the metacarpophalangeal (MP) joint; two-stage reconstruction created a four-fingered hand. Type IIA deformities (11 hands) had mild MP joint angular deformity and a more proximal complex syndactyly of the middle three digits; two-stage reconstruction created a three-fingered hand with ray resection of the third digit. Type IIB deformities (7 hands) had pronation of digit 2 superimposed on the thumb and radial angulation at the MP joint of digit 2; two-stage reconstruction created a three-fingered hand with ray resection of the second digit. Type IIC deformities (3 hands) had supination of digit 4 superimposed on digit 5 with ulnar angulation at the MP joint of digits 4 and 5; two-stage reconstruction created a three-fingered hand with ray resection of the fourth digit. This report presents a classification system and four different treatment strategies based on presenting radiographs.

Acrocephalosyndactylia↗
PubMed1998

The radiographic analysis of web height.

Web creep is a common complication following surgical release of syndactyly. Currently, normal web height has not been objectively determined, which prevents accurate analysis of the degree of web creep after surgery. The purpose of this study was to design a technique to reproducibly measure web height and to define the standard web height in a control population. Four hundred thirty-seven standard left posteroanterior hand x-rays of children without any upper extremity pathology were evaluated. Web height was measured as a relative ratio to digital length using standard landmarks. All measurements were tabulated according to gender, age, and web space. Statistical analysis was performed to determine the reliability of this technique and to delineate any differences between web space, gender, and age. There was no significant intraobserver or interobserver difference and web height was similar in males and females. There was a significant difference between web height with respect to web location and age. Normal ranges of web height with regard to age and web position were determined and plotted as graphs. Using this measurement method, web creep can be evaluated and comparison studies of different surgical techniques performed.

Adolescent↗
PubMed1991

[Polydactyly].

The authors reports the experience of the plastic surgery unit in the Kassab's Institute of Orthopedics in Tunis. This series consists of 44 cases of polydactyly dominated by duplication of the little finger and the thumb. A slight male predominance was observed and the mean age at surgery was 8 years. Two types of polydactyly were observed: simple, such as rudimentary digits, complex, with associated bone malformation or syndactyly. In ulnar polydactyly, associated duplication of the toes in frequently noted. The most frequent surgical approach was amputation of the more dystrophic finger with reconstruction and correction of the other congenital malformation observed. Some cases of digital redistribution were also performed. A review of the literature is presented together with an objective analyse of esthetic and functional results.

Child↗
PubMed1997

A new protocol for the treatment of hand deformities in recessive dystrophic epidermolysis bullosa (13 cases).

The recessive form of dystrophic epidermolysis bullosa creates severe hand deformities with disabling functional limitations in the main daily activities. Typically, the thumb is contracted in adduction, the first web space is obliterated, the palm and digits are contracted in flexion and interdigital spaces are lost (pseudo-syndactyly). In this paper, we present our experience with a protocol based on the association of various internationally developed techniques: brachial plexus anesthesia with ketamine sedation, dynamic splinting and coverage of the wounds with allogenic keratinocytes sheets. The overall results obtained in the first 13 patients showed a good tolerance of the procedure, no anesthesiologic complication and marked improvement of the hand deformities. The long-term follow-up revealed a recurrence before 2 years in 2 hands, between 2 and 4 years in 7 hands and after 4 years in 6 hands. The conclusion is that an aggressive surgical attitude, along with an adequate intra and post-operative rehabilitation, ensures a good restoration of hand function and a satisfying delay of inevitable recurrence.

Activities of Daily Living↗
PubMedDate not supplied

Reorganization of cortical representations of the hand following alterations of skin inputs induced by nerve injury, skin island transfers, and experience.

Tactile experiences remodel the central nervous system representations of the body surface. The results of assessments of ten peripheral manipulations that reveal different aspects of representational plasticity are reviewed: (1) chronic peripheral denervation; (2) surgical amputation; (3) digital syndactyly and its natural behavioral equivalents; (4) peripheral nerve crush with reinnervation; (5) peripheral nerve transection and repair, with reinnervation; (6) denervation of very large skin surfaces, for very long times; (7) electrical stimulation of large-fiber afferents in the median nerve, simulating electroacupuncture; (8) implantation of always-innervated island pedicle flaps; (9) behavioral training with locationally invariant stimuli; and (10) behavioral training with moving stimuli. Focus is on the changes recorded in a primary somatosensory cortical field, area 3b, following these ten manipulations, in adult monkeys. On the basis of these findings, the following are discussed: (1) how altered schedules of activity from the skin contribute to cortical representational remodeling; (2) other factors that influence the representational remodeling; (3) where the remodeling actually occurs; and (4) some implications of these findings for sensory rehabilitation.

Amputation, Surgical↗
PubMed1996

Three cases of oblique facial cleft.

Three patients with an oblique facial cleft are described. One patient displayed ring constriction, lymphoedema, distal pseudosyndactyly and an occipital encephalocele to which an amniotic band was attached at birth. Therefore, it was obvious that the oblique facial cleft was accompanied by an amnion rupture sequence. These signs were not apparent in the other patients. However, one of the patients demonstrated various anomalies, amongst which syndactyly on the right foot, scoliosis, microcephaly, microphthalmia and corneal opacity suggested that the patient may have been affected by the amnion rupture sequence, except for polydactyly on the left foot, cleft hand and vertebra plana.

Abnormalities, Multiple↗
PubMed2003

The natural history of sclerosteosis.

Sclerosteosis (SCL) is a severe, progressive, autosomal-recessive craniotubular hyperostosis (MIM 269500). The determinant gene (SOST) has been isolated, and genotype-phenotype correlations, as well as the elucidation of pathogenetic mechanisms, are dependent upon the documentation of the natural history of the condition. For this reason, the course and complications in 63 affected individuals in South Africa, seen over a 38-year period, have been analyzed. Thirty-four of these persons died during the course of the survey, 24 from complications related to elevation of intracranial pressure as a result of calvarial overgrowth. The mean age of death in this group of individuals was 33 years, with an even gender distribution. Facial palsy and deafness, as a result of cranial nerve entrapment, developed in childhood in 52 (82%) affected persons. Mandibular overgrowth was present in 46 (73%) adults and syndactyly in 48 (76%). In South Africa in 2002, 29 affected persons were alive, 10 being < or =20 years of age. It is evident that sclerosteosis is a severe disorder which places a considerable burden upon affected individuals and their families.

Abnormalities, Multiple↗
PubMed1997

Serrate2 is disrupted in the mouse limb-development mutant syndactylism.

The mouse syndactylism (sm) mutation impairs some of the earliest aspects of limb development and leads to subsequent abnormalities in digit formation. In sm homozygotes, the apical ectodermal ridge (AER) is hyperplastic by embryonic day 10.5, leading to abnormal dorsoventral thickening of the limb bud, subsequent merging of the skeletal condensations that give rise to cartilage and bone in the digits, and eventual fusion of digits. The AER hyperplasia and its effect on early digital patterning distinguish sm from many other syndactylies that result from later failure of cell death in the interdigital areas. Here we use positional cloning to show that the gene mutated in sm mice encodes the putative Notch ligand Serrate. The results provide direct evidence that a Notch signalling pathway is involved in the earliest stages of limb-bud patterning and support the idea that an ancient genetic mechanism underlies both AER formation in vertebrates and wing-margin formation in flies. In addition to cloning the sm gene, we have mapped three modifiers of sm, for which we suggest possible candidate genes.

Amino Acid Sequence↗
PubMed1995

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2. The contrasting effects of these mutations provide a genetic resource for dissecting the complex effects of signal transduction through FGFRs in cranial and limb morphogenesis.

Acrocephalosyndactylia↗
PubMed2005

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.

Fraser syndrome is a recessive, multisystem disorder presenting with cryptophthalmos, syndactyly and renal defects and associated with loss-of-function mutations of the extracellular matrix protein FRAS1. Fras1 mutant mice have a blebbed phenotype characterized by intrauterine epithelial fragility generating serous and, later, hemorrhagic blisters. The myelencephalic blebs (my) strain has a similar phenotype. We mapped my to Frem2, a gene related to Fras1 and Frem1, and showed that a Frem2 gene-trap mutation was allelic to my. Expression of Frem2 in adult kidneys correlated with cyst formation in my homozygotes, indicating that the gene is required for maintaining the differentiated state of renal epithelia. Two individuals with Fraser syndrome were homozygous with respect to the same missense mutation of FREM2, confirming genetic heterogeneity. This is the only missense mutation reported in any blebbing mutant or individual with Fraser syndrome, suggesting that calcium binding in the CALXbeta-cadherin motif is important for normal functioning of FREM2.

Animals↗
PubMedDate not supplied

Nevus comedonicus syndrome: a new pediatric case.

Nevus comedonicus (NC) is an uncommon developmental defect of the pilosebaceous apparatus. The individual lesions are large comedones often arranged in groups or in a linear pattern. Nevus comedonicus syndrome (NCS) is a well-defined disorder within the large group of epidermal nevus syndromes. In patients suffering from NCS, the nevus is associated with noncutaneous abnormalities including skeletal defects, cerebral anomalies, and cataracts. We report a 9-year-old boy with open comedones in a linear pattern localized to the right cheek, clinodactyly and polydactyly of the first right finger, bilateral syndactyly of the second and third toes, and some depigmented hairs since birth.

Biopsy↗