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PubMed1995

[Median clefts of the hand. Classification and therapeutic indications apropos of 29 cases].

Based on a series of 29 patients with median clefts of the hand (29 hands), the authors define the place of this malformation, its various clinical features and the therapeutic indications. The series consists of 13 boys and 7 girls, 9 bilateral cases and 11 unilateral cases. Involvement of the feet was observed in 9 cases. Several children also presented other malformations. 16 children were operated (22 hands). Two types of technique were used: simple closure of the cleft (Barsky's operation) and transposition of the index finger according to the Snow-Littler or Miura-Komada techniques. All operated patients were reviewed with a follow-up of more than one year and the results were assessed in terms of three criteria: overall use of the hand, thumb-index finger pinch grip, aesthetic appearance. The authors propose a new classification of median clefts of the hand based on examination of this series of 20 children: simple clefts with more or less complete absence of the middle finger, complex clefts with syndactyly (especially I and II), transverse bone polydactyly, extensive clefts with severe aplasia of the radial segment of the hand. Clinical and radiological examination confirm the experimental studies by Ogino. Barsky's operation gives satisfactory results in simple forms with parallel fingers. Translocation of the index finger to the base of the 3rd metacarpal is necessary in the presence of divergent fingers and syndactyly. Median clefts of the hand are very distinct from median aplasia, which is always unilateral, with no familial nature and no involvement of the feet and which can be classified together with brachysyndactyly. Each case must be studied before deciding treatment, as functional adaptation is always remarkable. The least favourable surgical results are observed in forms with abnormal position of the index finger (malrotation syndactyly). Lastly, the Snow-Littler operation is not devoid of complications.

Child↗
PubMed2001

Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature.

Fraser syndrome (cryptophthalmos-syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyperechogenic lungs contrasted by oligohydramnios, non-visualization of the kidneys and microphthalmia were sonographic markers leading to the prenatal detection of this rare autosomal recessive disorder in earlier reports. We report a case of Fraser syndrome diagnosed at 16 weeks' gestational age in a woman whose previous pregnancy was terminated because of multiple fetal malformations. Abnormal sonographic findings included bilateral agenesis of the kidneys, dilated trachea and main bronchi (suggestive of high airway obstruction), hyperechogenic lungs, syndactyly of the fingers, hepatomegaly, oligohydramnios and hydrops placentae. Face and cerebral structures appeared normal. These findings together with those of the previously affected child led to the diagnosis of Fraser syndrome. The parents elected to terminate the pregnancy. Autopsy results were confirmatory. In conclusion, prenatal diagnosis of Fraser syndrome is possible in the hands of an expert, but due to the great variety of possible malformations the diagnosis will remain doubtful in most cases in which no previous child is affected.

Abnormalities, Multiple↗
PubMed2002

[Dystrophic epidermolysis bullosa: surgical treatment of advanced hand deformities].

Dystrophic epidermolysis bullosa (Hallopeau-Siemens, recessive dystrophic epidermolysis bullosa) is a rare inherited disorder of the skin and mucosa, characterized by blistering in response to the slightest mechanical trauma. Healing is associated with scarring and the formation of contractures and milia. Following repetitive trauma (friction), this process leads to severe hand deformities with digits contracted in flexion, the thumb contracted in adduction and pseudo-syndactyly. In advanced cases (as described here), the hands show a mitten-like deformity and digits are encased in an epidermal "cocoon". This results in complete loss of function with major consequences for both the patient's (children's) daily life and their psychosocial development. We demonstrate the advantages of the (simplified) surgical procedure including "de-cocooning"/degloving, syndactyly-release, release of the thumb and the digital joint contractures and Kirschner-wire stabilization. Spontaneous epithelialisation of skin defects proved to be unproblematic and advantageous compared to skin transplantations, flaps, keratinocyte transplantations and other more ambitious procedures. Reviewing the published long-term results of other methods, we favour the procedure described because it simplifies and accelerates the overall treatment. From 1998 to 2001, we treated three children with recessive dystrophic epidermolysis bullosa and five hands were operated. A total number of 23 interventions was necessary (21 x using face masks, 2 x oral intubation). Pseudo-syndactyly (digits II - V, partially or totally) occurred in four hands after six to ten months. Flexion contractures of the digits occurred in two hands after eight to ten months. Limitating adduction contracture of the thumb occurred in two hands after eight to twelve months. Digital function (pinch and grasp) was actually preserved in two hands for 15 to 30 months. An active surgical approach is justified by the gain in functional improvement of the hand - even if only temporary - and, consecutively, by the positive effect on the child's development.

Bone Wires↗
PubMed2001

Regulation of limb patterning by extracellular microfibrils.

To elucidate the contribution of the extracellular microfibril-elastic fiber network to vertebrate organogenesis, we generated fibrillin 2 (Fbn2)-null mice by gene targeting and identified a limb-patterning defect in the form of bilateral syndactyly. Digit fusion involves both soft and hard tissues, and is associated with reduced apoptosis at affected sites. Two lines of evidence suggest that syndactily is primarily due to defective mesenchyme differentiation, rather than reduced apoptosis of interdigital tissue. First, fusion occurs before appearance of interdigital cell death; second, interdigital tissues having incomplete separation fail to respond to apoptotic clues from implanted BMP-4 beads. Syndactyly is associated with a disorganized matrix, but with normal BMP gene expression. On the other hand, mice double heterozygous for null Fbn2 and Bmp7 alleles display the combined digit phenotype of both nullizygotes. Together, these results imply functional interaction between Fbn2-rich microfibrils and BMP-7 signaling. As such, they uncover an unexpected relationship between the insoluble matrix and soluble factors during limb patterning. We also demonstrate that the Fbn2- null mutation is allelic to the recessive shaker-with-syndactyly (sy) locus on chromosome 18.

Alleles↗
PubMed1997

Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24.

Oculodentodigital syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an isolated entity. In the current investigation, a total genome search for the location of the ODD locus was instigated and linkage to polymorphic markers located on chromosome 6q established (pairwise Zmax = 9.37; theta = 0.001). Analysis of a large family with type III syndactyly, but atypical facial features, further suggested that isolated type III syndactyly is also located in this same region of the genome.

Abnormalities, Multiple↗
PubMed2002

Reconstruction of the hand in Apert syndrome: a simplified approach.

Children born with Apert acrocephalosyndactyly pose great challenges to the pediatric hand surgeon. Reconstructive dilemmas consist of shortened, deviated phalanges and extensive skin deficits following syndactyly release. We present a 10-year review of patients with Apert acrocephalosyndactyly who were treated with a simplified surgical approach. Between 1986 and 1996, 10 patients with Apert syndrome underwent reconstructive surgery of their hands. The overall strategy involved early bilateral separation of syndactylous border digits at 1 year of age, followed by sequential unilateral middle syndactyly mass separation with thumb osteotomy and bone grafting as needed. In these 10 patients, a total of 53 web spaces were released, 49 of which involved osteotomies for complex syndactyly. Only local flaps and full-thickness skin grafts from the groin were used in all cases to achieve soft-tissue coverage. To date, seven of the 53 web spaces have needed revision (revision rate, 13 percent). Eleven thumb osteotomies (nine opening wedge and two closing wedge) were performed. Bone grafts from the proximal ulna or from other digits were used in all cases. To date, none of these thumb osteotomies have needed revision. This early, simplified approach to the complex hand anomalies of Apert acrocephalosyndactyly has been successful in achieving low revision rates and excellent functional outcomes as measured by gross grasp and pinch and by patient and parent satisfaction.

Acrocephalosyndactylia↗
PubMed2006

Maternal cigarette smoking during pregnancy increases the risk of having a child with a congenital digital anomaly.

BACKGROUND: The U.S. Natality database from 2001 and 2002 was used to investigate the relationship between maternal cigarette smoking during pregnancy and the risk of having a child with polydactyly, syndactyly, or adactyly. METHODS: The records of 6,839,854 live births were examined to identify 5171 newborns with isolated polydactyly, syndactyly, or adactyly and 10,342 controls with no congenital anomalies. RESULTS: Maternal cigarette use during pregnancy was associated with a significantly elevated risk of having a child with a congenital digital anomaly (unadjusted odds ratio, 1.33; 95 percent confidence interval, 1.21 to 1.47; p < 0.0001). Univariate analysis indicated that maternal marital status and medical risk factors (anemia, cardiac disease, lung disease, diabetes, hydramnios/oligohydramnios, pregnancy-associated hypertension, incompetent cervix, previous preterm or small-for-gestational-age infant, and rhesus factor sensitization) were potential confounding factors. After adjustment for these variables, the odds ratio remained significant (adjusted odds ratio, 1.31; 95 percent confidence interval, 1.18 to 1.45; p < 0.0001). Cigarette consumption per day was divided into four groups: no smoking, 1 to 10 cigarettes per day, 11 to 20 cigarettes per day, and 21 or more cigarettes per day. A statistically significant dose-response relationship was found when comparing each smoking category with the no-smoking reference group: 1.29 (95 percent confidence interval, 1.15 to 1.46), 1.38 (95 percent confidence interval, 1.12 to 1.71), and 1.78 (95 percent confidence interval, 0.97 to 3.26), respectively. Increased cigarette smoking during pregnancy resulted in an elevated risk of having a child with polydactyly, syndactyly, or adactyly. CONCLUSIONS: This is the largest study to date to investigate specifically the association between maternal cigarette smoking and the risk of having a newborn with a congenital digital anomaly. The elevated odds ratio for tobacco use and the significant trend in the dose-response relationship suggests smoking during pregnancy may be an important preventable risk factor for these common congenital differences.

Abnormalities, Multiple↗
PubMed1998

The different appearance of the oculodentodigital dysplasia syndrome.

We report on two families with the oculodentodigital (ODD) dysplasia syndrome, also called Meyer-Schwickerath syndrome. It represents a rare disorder characterized by eye and facial abnormalities causing a unique facial appearance. The phenotype of the young patients resembles those of identical twins. We found syndactyly mostly at the hands and, additionally, characteristic phalangeal aberrations, defects in teeth enamel, and trichosis. In the one family, the ODD dysplasia syndrome seemingly originated in a new mutation. The affected child was treated surgically in our clinic (syndactyly separation). In the other family, three patients (grandmother, mother, and granddaughter) were subjects of syndactyly separation. The aim of our surgeries was to separate the webbed fingers so there would be a normal spread and to improve the function and appearance of fingers. The ODD dysplasia syndrome correlates with the Hallermann-Streiff syndrome, or oculomandibulodyscephaly, which is characterized by a typical skull shape (brachicephaly with frontal brossing), a bird-like face, and eye abnormalities (congenital cataracts and microphthalmia).

Abnormalities, Multiple↗
PubMed2003

Intercalary non-vascularised toe phalanx transplantation for short finger-type symbrachydactyly.

A two-year-old boy with short finger-type symbrachydactyly involving the index, middle, and ring fingers was treated with intercalary nonvascularised toe phalanx transplantation into the middle finger to obtain stability of the middle finger before syndactyly release. He underwent syndactyly release one year after the transplantation. Two years after the transplantation, the clinical result was satisfactory, although X-ray showed fibrous union between the transplanted phalanx and the host phalanx. Intercalary nonvascularised toe phalanx transplantation is one of the way of stabilising a finger after syndactyly release.

Fingers↗
PubMed2001

Syndactyly/brachyphalangy and nail dysplasias as marker lesions for sclerosteosis.

Sclerosteosis describes an autosomal recessive form of hyperostosis corticalis generalisata (MIM 239100). Sclerosteosis is primarily a disorder of osteoblast hyperactivity and metabolic abnormalities are not present. Besides generalized bone changes the presence of asymmetric cutaneous syndactyly of the index and middle fingers is characteristic. In many cases this syndactyly is associated with nail dysplasia and therefore dermatologists should recognize this clinical finding as a possible marker of this entity. We report on a 36-year-old female of Greek origin who had had finger and nail dysplasias and facial asymmetry since birth. The patient was hospitalized on the Neurology ward because of increasing spastic and ataxic gait disturbances. Physical examination revealed numerous neurological problems resulting from bony compression of nerves. Furthermore the patient had remarkably deformed fingers with hypoplasia of the second finger on both sides. The nails were dysplastic, especially on both index fingers. All laboratory results concerning metabolic diseases were normal. It has been shown that sclerosteosis is clinically and radiographically very similar to van Buchem disease. Through a genome-wide search with a highly polymorphic microsatellite the gene responsible for van Buchem disease has been mapped to 17q12-q21, and Balemans et al. (1999) assigned the locus for sclerosteosis to the same region providing genetic support for the hypothesis of allelism. Dermatologists should be able to interpret such syndactyly associated with nail deformities as a possible hint for the diagnosis of sclerosteosis in patients with hyperostotic features.

Adult↗
PubMed1994

Phenotypic variation in acrocephalosyndactyly syndromes: unusual findings in patient with features of Apert and Saethre-Chotzen syndromes.

The acrocephalosyndactyly syndromes have presented diagnostic challenges because of overlap in their clinical manifestations. We present a patient with features most suggestive of Apert syndrome, but with a pattern of syndactyly not previously described. In contrast to the complex syndactyly reported as a universal feature of this syndrome, this patient shows close to total simple syndactyly of the index through ring fingers of each hand. Differential diagnoses are discussed. Because the features are reminiscent of Apert syndrome, we suggest that a new classification of hand morphology should be added to include the pattern described here.

Acrocephalosyndactylia↗
PubMed1978

Upper extremity deformities associated with the orofacial clefts.

A material of 89 cases of upper extremity deformities, among the 3225 cleft patients born during the period 1950-75, and treated in the Finnish Red Cross Cleft Centre is presented. About two-thirds of the patients had an isolated cleft palate--half of the male and nearly all of the female patients. The percentage of upper extremity deformities appearing with the different types of the orofacial clefts was, for clefts of the primary palate 2.0: specifically for cleft lip 0.8, cleft lip--palate 2.6, and cleft lip and palate 3.6; and for clefts of the secondary palate 3.5: specifically for cleft palate 3.7, submucous cleft palate 1.6; and for the branchial arch syndrome (lateral cleft) 5.2; the total average being 2.8 percent. About one-third of the patients were dwarfs, most of them diastrophic dwarfs. Syndactyly was somewhat more common among cleft patients, 0.3%, than in the average population. Polydactyly, 0.1% was about as common as the average. Ectrodactyly was more common among cleft patients, 0.4%, than either syndactyly or polydactyly that are considered the most common hand deformities among the general population. The syndactyly cases were more complicated than the average, among them 4 cases of Apert syndrome were noted. About three-fourths of the 89 patients had multiple deformities.

Abnormalities, Multiple↗
PubMed1976

Poland's syndrome.

Forty-three consecutive cases of Poland's syndrome were analyzed and the relevant literature was reviewed. The syndrome is not hereditary and is of unknown origin. It affects males more frequently than females. The clinical features are variable but always include congenital aplasia and syndactyly. The middle phalanges are hypoplastic or absent so that effectively there is only one interphalangeal joint. The syndactyly is usually incomplete and simple. It may involve all fingers and frequently includes the thumb, which then lies in the same plane as the fingers. Poland's syndrome may also include hypoplasia of the nipple and breast, hypoplasia of the upper ribs, herniation of the lung, contracture of the anterior axillary web, and elevated scapula. The arm and more frequently the forearm are hypoplastic. The right side is more often affected than the left. Surgical treatment by separating the syndactyly is recommended. In some cases a digit is removed to produce a three-fingered hand. Surgery is initiated by the age of one year and is completed by the time the child enters school, although periodic revisions may be necessary. Although the hand remains hypoplastic and functional capacity is limited by the inherent skeletal anomalies, surgical treatment improves functional capacity and cosmetic appearance in the majority of patients.

Arm↗
PubMed1978

[Surgical treatment of syndactylia].

In a review of over 100 surgical procedures on the hand in the pediatric age group during the past 4 years, experience in the treatment of syndactyly of the hand is discussed. Due to their structural differences, exogenous acrosyndactylies are to be distinguished from the genetically determined cutaneous and osseous syndactyly. Early separation of thumb, index and fifth finger ensures grip function and improves psychointellectual development. Scar syndactyly is avoidable given an appropriate technique for formation of the interdigital commissure and if triangular flaps for long digits are used.

Bone and Bones↗
PubMed1981

[An angiographic study of congenital hand anomalies (author's transl)].

Accurate knowledge of the arterial variations of the anomalous hand is of considerable practical importance not only in the process of reconstructive surgery in hand anomalies but also in the consideration of the classification and the developmental stage of these defects. Between 1970 and 1980, we have performed an angiography on 102 anomalous hands of 97 patients at the Department of Orthopaedic Surgery, Nagoya University Branch Hospital. They consist of 28 cases of polydactyly, 25 of syndactyly, 14 of cleft hand, 13 of radial ray deficiency, 6 of ulnar ray deficiency, 6 of congenital constriction band syndrome, 5 of brachysyndactyly, 3 of macrodactyly and 1 each of monodactyly and aberrant muscle of the forearm. High origin of the radial artery was encountered in 11 out of 95 hands (11.6 per cent). In 5 out of 11 hands, an incomplete volar arch was found. The median artery entered into the formation of the superficial volar arch in about 20 per cent of cases. It occurred most frequently in radial ray deficiency (Table 1). An unusual division and course of the artery in the forearm occurred in 5 hands. The developmental disorders of the radial artery were encountered in 19 of the 102 hands (18.6 per cent). Especially, they were observed frequently in radial ray deficiency, and represented an occurrence in 84.6 per cent of these deficits (Table 2). The superficial volar arch was absent in about 25 per cent of cases. This arterial pattern was seen frequently in cleft hand and syndactyly (Table 3). In 30 of the 39 cases of syndactylism, the common digital artery bifurcated into the proper digital artery much further distally than normal. The digital arterial patterns of the duplicated thumb could be divided into 4 types (Fig. 3). The arterial patterns of cleft hand were quite different from those with radial ray deficiency, but were rather similar to those of syndactyly. The arterial patterns of ulnar ray deficiency tended to fall into two groups: those with the developmental disorders of the radial artery and those without them.

Adolescent↗
PubMed1998

Associated anomalies in individuals with polydactyly.

An epidemiological analysis of the association of polydactyly with other congenital anomalies was performed in 5,927 consecutively born polydactyly cases. They were grouped into three categories: duplicated fifth digit, duplicated first digit, and rare polydactylies; also into isolated or associated groups, if other birth defects were or were not observed in the same infant. Associated cases were further subdivided into: combined, if the other defect was a limb defect; syndromic, if a non-limb defect constituted a recognized causal or pathogenetic entity; and MCA, if a non-limb defect did not constitute a recognized entity. In 14.6% of the 5,927 polydactyly cases studied, polydactyly was not the only congenital anomaly. This associated proportion was minimal for postaxial (11.8%), intermediate for preaxial-I (20.0%), and maximal for rare polydactyly (54.9%). Duplication of the fifth toe plus syndactyly of fourth and fifth toes, as well as other syndactylies adjacent to the duplicated digit is the most frequent type. Syndactyly of fourth and fifth toes was also combined with a duplicated fifth finger, suggesting the existence of an arrested or amputated in utero sixth toe. Polydactylies are rarely associated with other congenital anomalies except in recognizable syndromes. When syndromes are excluded, most of the significant positive associations disappear. Trisomy 13, Meckel, and Down syndrome explained 255 of the 338 syndromic polydactyly cases. Down syndrome is strongly associated with first-digit duplication, and negatively associated with postaxial polydactyly. The latter could not be explained by maternal age differences among Black and non-Black case sub-sets.

Abnormalities, Multiple↗
PubMedDate not supplied

Cerebral malformations in Carpenter syndrome.

The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosynostosis with polydactyly and syndactyly, and craniosynostosis with other somatic abnormalities. Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia. As many as three-fourths of the patients have some degree of intellectual impairment. The etiology of mental retardation in this syndrome has not been explored. A patient is reported with the features of Carpenter syndrome who has profound developmental delay and cerebral malformations demonstrated by magnetic resonance imaging and computed tomography. Because mental retardation is not an invariable feature of this syndrome or other craniosynostosis syndromes, neuroradiologic examination may help in predicting the intellectual outcome in these patients.

Acrocephalosyndactylia↗
PubMed1995

Birth prevalence of malformations in members of different ethnic groups and in the offspring of matings between them, in Birmingham, England.

STUDY OBJECTIVES: The aims were: (1) to compare the birth prevalence of malformations in different ethnic groups and (2) to explore the reasons for the ethnic variations found by examining birth prevalence in the offspring of matings between ethnic groups. DESIGN: Analysis of data from a register of malformations and register of births. SETTING: Birmingham, England. SUBJECTS: A total of 432,778 infants (including stillbirths) born in 1960-84. MAIN RESULTS: Significant differences (p < 0.01) between ethnic groups were exhibited by the birth prevalence of neural tube defects (NTD), cleft palate, cleft lip, oesophageal atresia/fistula, hypospadias, hip dislocation, clubfoot, polydactyly, and syndactyly. In the offspring of matings between parents of European and Caribbean origin, the birth prevalence of NTD, cleft lip, hypospadias, hip dislocation, polydactyly, and syndactyly seemed more likely to be influenced by the ethnicity of both parents than by that of the mother alone. The reverse was true for the birth prevalence of NTD in subjects with one parent of Irish origin and on of British. CONCLUSIONS: Genetic differences may be responsible for Europeans being at lower risk of polydactyly and at higher risk of NTD, cleft lip, hypospadias, hip dislocation, and syndactyly than Caribbeans. Variations in the intrauterine environment are more likely to account for NTD being more common in Irish than in British subjects.

Asia↗