Congenital Hand Malformations Research Articles

Correction of Congenital Metacarpal Synostosis with Polypropylene Mesh as an Interpositional Material

Metacarpal synostosis is an uncommon congenital hand malformation characterized by the coalescence of two or more adjacent metacarpals. Patients visit the hospital due to abduction deformity, which is usually a mild deformity or a minor functional deficit. This is one of the reasons why the patient goes to the hospital late and foregoes proper management with early detection and treatment. A number of surgical procedures ranging from simple to complex have been employed for treatment of this deformity. We describe our experience with a longitudinal osteotomy, realignment of component metacarpals with the metacarpophalangeal joint, and interposition of a non-absorbable polypropylene mesh used for inguinal hernia for correction of the abducted deformity and prevention of recurrence of synostosis while minimizing morbidity.

Congenital Anomalies of the Hand

Of the 1% to 2% of newborns that are born with congenital defects, 10% of these are born with upper extremity malformations. Although many classification systems have been developed, the most widely used classification system was developed by Swanson. This system categorizes the congenital upper extremity malformations according to the embryonic process that has failed to develop. Congenital hand malformation is a broad category that is broken down into 7 subclasses. This review will focus on congenital hand defects and their associated craniofacial syndromes. The topics will include failure of formation, failure of differentiation, duplication, overgrowth, undergrowth, constriction band syndromes, and generalized skeletal abnormalities.

Four-generation postaxial polydactyly in a Chinese family

Polydactyly, one of the fairly common congenital deformities of the hands and/or feet, occurs as an isolated disorder or as part of a syndrome. It is not only observed sporadically, but also inherited with a mainly autosomal dominant inheritance. However, postaxial polydactyly in both hands and feet with 24 digits in total was rarely reported in China. CASE REPORT We present a Chinese family with affected members in four generations. The family members were inhabitants in the west of Zhejiang Province, China. They had not got consanguineously married. The proband (IV5) was found on a routine physical examination. Among 38 subjects in four generations of the family there were 10 affected men and 9 affected women (Fig. 1). They all had bilateral postaxial polydactyly with duplications of the fifth digit in hands and feet (Fig. 2). The affected members were examined carefully to exclude other congenital deformities.Fig. 1.: The pedigree of the family: square and round symbols indicating the male and female members, respectively. The black-shaded figures indicating family members with 24 digits.Fig. 2.: Bilateral postaxial polydactyly with duplications of the fifth digit in hands and feet.DISCUSSION Polydactyly can be generally subclassified into preaxial and postaxial forms according to its anatomical location.1 Most cases of polydactyly of the hand and foot were postaxial, and preaxial involvement was uncommon.2 Postaxial polydactyly is characterized by duplications of the fifth digit in hands and/or feet. Two phenotypes have been reported so far. The extra digit is well formed and articulates with the fifth or extra metacarpal bone in type A, whereas the rudimentary extra fifth digit is presented in type B.3 The etiology of polydactyly can be classified into environmental and genetic. Congenital hand malformations including polydactyly are mostly single gene diseases.4 Mutations in the GLI3 gene are associated with postaxial polydactyly in a single family5 and other loci for this disease have been identified on chromosome 7q21-q34 and chromosome 19p13.1–13.2.3,6 Most inherited cases of polydactyly involving the hand and foot are of autosomal dominant inheritance but still a few syndromic postaxial cases (Ellis-van Creveld syndrome), are of autosomal recessive inheritance.2 In this report, the pedigree of the family shows the affected familial members of each generation, almost equal numbers of affected males and females, and the marriages between affected and normal subjects producing affected and normal progeny, clearly indicating an autosomal dominant mode of inheritance in postaxial polydactyly. In principle, the extra digit is removed for the treatment of postaxial polydactyly. The surgery should be performed when the patient is young.

Calcareous Lesions of the Distal Extremities Resembling Tumoral Calcinosis (Tumoral Calcinosislike Lesions): Clinicopathologic Study of 43 Cases Emphasizing a Pathogenesis-based Approach to Classification

Herein, we analyze the clinicopathologic features of 46 distal extremity lesions that have histologic features similar to conventional tumoral calcinosis (tumoral calcinosislike; TC-L). The study included 31 females and 12 males (whites:non-whites>3:1) ranging in age from 1 to 91 (mean, 39; median, 42) years. The lesions presented in fingers (n=20), feet (n=10), wrist (n=6), hands (5), toes (n=4), and ankle (n=1) were solitary in all but 5 patients and ranged in size from 0.3 to 4.5 (mean, 1.6; median, 1.4) cm. Chief initial complaints included presence of a painful (n=16) or asymptomatic (n=7) mass, and limitation of joint mobility (n=3). Pertinent clinical associations included antecedent trauma (n=7), scleroderma (n=3), long-standing osteoarthritis (n=3), bony deformities (n=5), including 2 infants with congenital hand malformations, and chronic renal failure (n=2). Patients were stratified into one of the 3 recognized clinical settings of TC: primary normophosphatemic (n=17), secondary (n=5), or primary hyperphosphatemic TC (n=1). The 20 remaining patients were placed in an "indeterminate TC" category. Most lesions were located in tenosynovial/fascial tissue, but 13 lesions involved dermis and 1 was intra-articular. Histologically, the process consisted of multiple cystic or cleftlike spaces bordered by histiocytes, osteoclastlike giant cells, and a variable inflammatory infiltrate and containing fibrin, granular calcific debris, and calcospherites. Pools of calcific debris bordered by sclerotic collagen and a sparse cellular element predominated in 4 cases. Cartilaginous metaplasia was identified in 10 lesions and evidence of hemorrhage or specific injury was observed in 12 examples. Follow-up data for 22 patients (interval range, 1 to 30 y; median, 6 y) revealed 17 individuals with no evidence of recurrent disease or the development of additional lesions after simple (local) excision. One patient (indeterminate TC) required reexcision of a thumb mass 1 year after surgery. All 3 scleroderma patients developed additional TC-L lesions. Acral TC-L lesions are histologically similar to conventional TC, but present as smaller size lesions. Most TC-L lesions are closely aligned with primary normophosphatemic or secondary TC. Acral TC-L lesions may be the first manifestation of scleroderma, where the process has the potential to follow an unrelenting course.

Ultrasound detection of soft and bony tissues in congenital hand malformations. Examples taken in daily paediatric surgical clinics

According to the everyday use of ultrasound in the whole field of paediatric surgery we would like to define its potential role in the assessment of congenital hand malformation (CHM). We therefore tested it for several diagnoses like digitus saltans, camptodactylism, triphalangeal thumb and syndrome-associated malformations in comparison as well as in addition to clinical and x-ray findings. All soft and bony tissue details could be displayed reasonable giving the paediatric surgeon additional information. Additional information that is available at the bedside, non-invasive, less costly and does not use ionising radiation.

Outcome Analysis, Including Patient and Parental Satisfaction, Regarding Nonvascularized Free Toe Phalanx Transfer in Congenital Hand Deformities

The therapy for congenital hand malformations, especially in symbrachydactyly and constriction ring syndromes, is challenging. Between 1975 and 1995, 20 children with congenital hand deformities underwent reconstruction by 56 nonvascularized free toe phalanx transfers. The average age at initial surgery was 4.8 (range, 0.5 to 22) years. Retrospectively, the children were examined after an average of 3.5 (range, 1.5 to 17.6) years for function of the hand, transplanted phalanx growth, assessment for the epiphyseal plate, and assessment for psychologic performance with their parents. Donor-site morbidity was determined according to measured growth deficit, observing the child's gait, and toe function. In the younger patients (up to 1.5 years), the grafts were well tolerated and showed good growth and only few resorptions. In the age group from 1.5 to 4 years, the grafts showed no growth. In the age group older than 4 years, the grafts were mostly resorbed. The clinical reexamination revealed in most cases only passive motion in the joints, but the function of the hand was improved, with only few problems of the donor site. Most patients and their parents reported a positive effect of the phalanx transfer.

Nachweis daumenspezifischer Muskulatur beim triphalangealen Daumen mittels MRT

The presence of three phalanges in the first digit is considered to be a relatively rare congenital hand malformation. Six groups of this deformity can be distinguished: some digits are opposable, others resemble a non-opposable five-fingered hand. In cases of a hypoplastic thenar region with a restrained opposition, a clear verification of thumb-specific musculature has been hardly possible. We report of the possibility of a non-invasive identification of thumb-specific muscles by means of magnetic resonance imaging.

A morpho-etiological description of congenital limb anomalies

BACKGROUNDLimb anomalies rank behind congenital heart disease as the most common birth defects observed in infants. More than 50 classifications for limb anomalies based on morphology and osseous anatomy have been drafted over the past 150 years. The present work aims to provide a concise summary of the most common congenital limb anomalies on a morpho-etiological basis.PATIENTS AND METHODSIn a retrospective study, 70 newborns with anomalies of the upper and/or lower limbs were ascertained through clinical examination, chromosomal analysis, skeletal surveys and other relevant investigations.RESULTSFetal causes of limb anomalies represented 55.8% of the cases in the form of 9 cases (12.9%) with chromosomal aberrations (trisomy 13, 18 and 21, duplication 13q and deletion 22q) and 30 cases (42.9%) with single gene disorders. An environmental etiology for limb anomalies was diagnosed in 11 cases (15.7%) as amniotic band disruption, monozygotic twin with abnormal circulation, vascular disruption (Poland sequence, sirenomelia and general vascular disruption) and an infant with a diabetic mother. Twenty cases (28.5%) had limb anomalies as part of sporadic syndromes of unknown etiology.CONCLUSIONSThe morpho-etiological work-up of limb anomalies adopted in the present study is valuable for detecting the cause of the anomaly and is crucial for its prevention. Prevention can be achieved by proper genetic counseling, which includes recurrence risk estimation and prenatal diagnosis.

The "candlestick" technique for the correction of certain types of congenital metacarpal synotosis

Metacarpal synostosis is a rare congenital hand malformation requiring only occasionally a surgical correction. However in case of divergent epiphyses there is a progressive accentuation of the deformity. In the "Y" type of symmetrical synostosis, the authors propose a trapezoidal osteotomy with upside down relocation allowing realignement of the epiphyses without distant bone donor site.

Acrocephalosyndactyly -- the coalesced hand.

Described nearly a century ago, Apert's Syndrome (A.S.) is a rare disorder affecting 1/80,000 children, the mode of inheritance is autosomal dominant or sporadic. Apart from the more obvious skull malformations, extensive and complex hand deformities create several problems for the child's interaction with its environment, preventing normal intellectual development and generating psychological problems as severe as those caused by the craniofacial abnormalities. The deformities seen here are some of the most complex of all congenital hand malformations. Between January 1987 and January 1999, 71 children presenting with hand syndactyly were treated at the Hospital de Dona Estefania (H.D.E.), a total of 177 syndactylies. Of those, 51 had no associated illnesses, 14 had other conditions and six had A.S. All six cases were sporadic; one child had a cleft palate and another suffered from epilepsy. The timing at which the various surgeries were performed was diverse, however, there has been a recent trend towards earlier interventions in order to obtain a functional hand before the age of two. Aesthetic results vary a lot depending on the complexity of the lesions and we sometimes accept a three or four-digit, but functional hand. We achieved hands with a function of 40 to 65 % in all our patients before school age. Due to A.S.' rarity, an effective use of resources and good results can only be obtained in a specialised centre with a multidisciplinary team.

Toe transfer in congenital hand malformations.

Fifty-eight patients with congenital hand abnormalities underwent 65 toe-to-hand transfers. Symbrachydactyly (51 cases) was the most frequent indication. Forty-seven second toe-to-hand transfers were performed in 44 patients. The mean follow-up time was 5.2 years. Two failures occurred in cases in which only one artery was anastomosed; no failures were noted when more than one artery fed the transfer. Two patients with a single second-toe transfer presented with lateral instability of the transferred metatarsophalangeal joint. The mean active range of motion was 38 degrees, with a mean extension lag of 25 degrees. The mean two-point discrimination was 5 mm. Forty-one patients used the transferred toe well, when performing activities of daily living and playing games. Toe-to-hand transfer, prior to the establishment of the grip pattern, facilitates integration of the transfer.

A Physical and Transcriptional Map of the Preaxial Polydactyly Locus on Chromosome 7q36

Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped to a region of 1.9 cM on chromosome 7q36 between polymorphic markers D7S550 and D7S2423. We constructed a detailed physical map of the preaxial polydactyly candidate region. With a combination of methods we identified and positioned 11 transcripts within this map. By recombination analysis on families with preaxial polydactyly, using newly developed polymorphic markers, we were able to reduce the candidate region to approximately 450 kb. The homeobox geneHLXB9,a putative receptor C7orf2, and two transcripts of unknown function, C7orf3 and C7orf4, map in the refined candidate region and have been subjected to mutation analysis in individuals with preaxial polydactyly.

Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36

Polydactyly is the most frequently observed congenital hand malformation with a prevalence between 5 and 19 per 10 000 live births. It can occur as an isolated disorder, in association...

Psychomotor development in children with triphalangeal thumbs: A preliminary study

In order to explore the influence of an isolated congenital hand malformation on psychomotor development, we performed an exploratory, observational study on 18 children with triphalangeal thumbs. The investigative procedure consisted of a hand function examination, a semi-structured interview with the mother about the development of the child, the so-called "Hand test", and the "Child Behaviour Check List". Our observations suggest specific developmental difficulties in fine motor skills and language development, but the children showed no signs of behavioural psychopathology.

Genetics of limb development and congenital hand malformations.

The vertebrate limb bud develops along three different axes: proximodistal, anteroposterior, and dorsoventral. Several genetic factors responsible for control of each of the three limb axes have been identified. The genes involved interact in complex feedback loops to achieve proper arrangement and differentiation of tissues. Most of the available information on limb development and patterning has come from studies carried out in the lower vertebrates. In recent years, an increasing number of studies have been unraveling the genetic basis of human hand malformation phenotypes. At present, genes responsible for preaxial polydactyly, split hand/split foot malformation, and brachydactyly type C have been localized, and the gene responsible for synpolydactyly has been identified. In this paper, we present an overview of the genetic factors involved in limb development, followed by summarized discoveries in the genetics of human congenital hand malformations.

The role of metacarpophalangeal pattern (MCPP) profile analysis in the treatment of triphalangeal thumbs: Description of a method and a case report

The metacarpophalangeal pattern (MCPP) profile analysis is a method of comparing the length of each of the 19 tubular bones of the hand on the X-ray with the standard length in the normal population according to age and sex. An MCPP plot is a graphic illustration of the MCPP analysis. It is not the exact height of the curve on the MCPP plot which is most important, but the profile which occurs because of the individual lengthening or shortening of the bones. This pattern profile appears to be specific for several congenital malformation syndromes. We have recently used MCPP analysis in planning surgery for triphalangeal thumbs. The percentage of excessive or reduced length of each individual bone of the hand can be read from the MCPP plot and is helpful in calculating a more accurate length for the newly created thumb. MCPP analysis can be used as a diagnostic tool in a number of congenital hand malformations, but may also be helpful in planning surgical treatment of congenital hand malformations when abnormal bone length is involved.

Congenital hand malformations in children. Preoperative examination and surgical treatment using distraction devices (in Russian).

Congenital hand malformations in children. Preoperative examination and surgical treatment using distraction devices (in Russian).

MCP analysis and its role in the treatment of congenital hand malformations

MCP analysis and its role in the treatment of congenital hand malformations

Tumoral calcinosis associated with congenital malformations of the hand

Two cases of tumoral calcinosis are reported in children with congenital hand malformations. After excision of large calcific masses, reconstruction was performed using a free phalangeal graft in one case and a free toe transfer in the other.

Digital subtraction angiography in preoperative examination of congenital hand malformations

Since 1971, we have carried out in our department systematic angiographic research on cases of congenital hand deformities to determine how the vascular pattern takes part in the global anatomic deformity of the malformed hand.” 2 From our point of view, proper evaluation of the blood supply is important to classify the congenital malformation, complete the patient’s documentation, and select the correct surgical planning when treating a malformed hand. Since 1981, we have performed a digital subtraction angiography technique that has well-known advantages over traditional techniques: it allows better visualization, provides a real-time hemodynamic evaluation, uses lower doses of contrast medium, and gives the possibility to register the entire examination on a magnetic tape.3-9 Technique. In children under 14 years of age, we prefer to perform the examination under general anesthesia; in older patients a brachial plexus block, if indicated, can be performed. To prevent allergic reactions, 4 mg of betamethasone sodium phosphate is given intravenously the evening before the test; the day of the examination 1.5 mg of betamethasone sodium phosphate and 10 mg of chlorpheniramine maleate are given intravenously. The contrast medium used is iodated or noniodated (iopamidol or iohexol). The humeral artery is exposed at the elbow to avoid problems relating to percutaneous injections such as hematomas, intimal damage, infiltration of contrast medium in the forearm’s soft tissues, and damage to the median nerve. If ex-