SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
A case of Ellis van Creveld syndrome is described in which, in addition to all the major features constituting the tetrad of chondroectodermal dysplasia, there was (unusually) bipedal hexadactyly. As well as the frequently reported oral anomalies, this case exhibited taurodontism of permanent and some primary molars, a finding rarely reported in this syndrome.
A case of split hand anomaly detected by transvaginal sonography at 18 weeks of gestation is reported in which the diagnosis was difficult to establish. Different aspects of this pathology are discussed. Sonographic diagnosis of hand anomalies may be difficult to establish, even with experience. The ideal timing for the prenatal detection of this anomaly remains to be determined.
A human polydactylous left foot with 9 toes, amputated from an 11-mo-old child, was examined by x-ray and magnetic resonance imaging and by gross dissection to identify the digits. The normal sequence of toes from medial to lateral is 1, 2, 3, 4, 5. Examination of the morphology of tendons and muscles suggested the toe sequence was 1, 2, 3/4, ?5, 2, 3/4, 3/4, 5. The 2 toes in the sequence that are underlined were displaced dorsally and were found to have 2 extensor tendons, no flexor tendons and nails that were conical and situated at their tips. These toes resembled those described as 'double-dorsal' and which develop in paws of mice in which a gene normally expressed ventrally is functionally inactivated (Loomis et al. 1996). Specification of toe formation occurs in leg buds early in embryonic development and later there is rotation of the limb so that the anterior (rostral) part comes to lie medially, i.e. the hallux which was anterior (rostral) now is on the inner (medial) side of the foot. A disruption in the patterning of this foot in both anteroposterior (rostral-caudal) and dorsoventral axes during development could be responsible.
Nine patients divided into two groups were treated for pedunculated supernumerary digits or their sequelae. The first group consisted of three patients who had among them five traumatic amputation neuromas. In each case these lesions resulted from primary suture ligation of accessory digits in infancy. Secondary surgical excision of the vestigial digit with high ligation and retraction of the accompanying nerve tissue was required in all cases. The second group consisted of six patients who had 12 pedunculated supernumerary digits. Primary surgical excision of these digits was performed with high transection and retraction of the accompanying accessory digital nerve. All patients in this group had excellent cosmetic results with no postoperative neuroma formation. Adult family members who had undergone suture ligation of similar supernumerary digits in infancy accompanied seven of the nine patients in this series. On careful examination, each of these family members had signs and symptoms attributable to traumatic amputation neuromas. We feel identification and high transection of the accessory digital nerve is essential in the treatment of pedunculated supernumerary digits. This treatment prevents traumatic amputation neuromas and yields a better cosmetic result than the traditional method of suture ligation in infancy.
As the molecular aspects of limb development are being unraveled, more of the congenital anomalies seen by hand surgeons in the clinical setting will have an identifiable molecular basis. The majority of the data available regarding the molecular development of the upper extremity have come from experimental animal studies, specifically the mouse and chicken. These findings are being discovered by either direct surgical and molecular manipulation of the developing limb or by production of mice deficient in specific genes. Relatively few specific human mutations that cause limb abnormalities have been identified. Hand surgeons should be aware of the basic molecular pathways controlling limb development because they are in a unique position to be able to identify patients with such deformities. In turn, detailed clinical descriptions of congenital anomalies affecting the upper extremity will advance the understanding of the cellular events controlled by the molecular pathways of limb development. This review describes the general molecular basis of limb development and correlates it with disease processes affecting the upper extremity.
We describe the sixth reported case of Laurin-Sandrow syndrome. This spectrum of congenital abnormalities includes complex syndactyly, often associated with ulnar duplication, mirror feet and columella deformities. We discuss Laurin-Sandrow syndrome and report on its surgical management.
Explore the source record for details and available documents.
PURPOSE: We propose a new classification of cleft hand based on the analysis of our own cases and a literature search. METHODS: We analysed clinical data and radiographs of 31 patients with 54 cleft hands in addition to 225 cleft hands from the literature, and classified them with the help of schematic drawings of radiographs in extension of the proposals of Blauth and Schneider-Sickert. RESULTS: Classification of cleft hand: 1. Median cleft hands without involvement of thumb and small finger. 2. Medioradial cleft hands with thumb affected but with detectable residuals preserved. 3. Radial cleft hands with thumb aplasia. Medioulnar cleft hands with small finger affected but detectable residuals preserved. 5. Ulnar cleft hands with small finger aplasia. Median cleft hands more frequently appear unilateral and are more seldom combined with cleft feet as medioradial and radial cleft hands. In radiographs, aplasia predominate in radial cleft hands while synostoses often appear in median cleft hands. CONCLUSIONS: The new classification enables us to arrange the great diversity of this malformation and takes medioulnar and ulnar cleft hands into account.
Congenital limb malformations exhibit a wide spectrum of phenotypic manifestations and may occur as an isolated malformation and as part of a syndrome. They are individually rare, but due to their overall frequency and severity they are of clinical relevance. In recent years, increasing knowledge of the molecular basis of embryonic development has significantly enhanced our understanding of congenital limb malformations. In addition, genetic studies have revealed the molecular basis of an increasing number of conditions with primary or secondary limb involvement. The molecular findings have led to a regrouping of malformations in genetic terms. However, the establishment of precise genotype-phenotype correlations for limb malformations is difficult due to the high degree of phenotypic variability. We present an overview of congenital limb malformations based on an anatomic and genetic concept reflecting recent molecular and developmental insights.
The presentation of thumb duplication is variable depending on the level of bifurcation, the relative sizes of the two thumbs and their possible symmetry along a longitudinal axis. Resection of the supernumerary thumb often leads to disappointing results when both thumbs are hypoplastic. The principle of the "Bilhaut-Cloquet" procedure involves central resection of the duplication followed by fusion of the remaining lateral portions, in order to obtain a thumb of satisfactory volume. Thirteen children with unilateral thumb duplication were treated using the "Bilhaut-Cloquet" procedure. Nine cases involved duplication of the distal phalanx (Wassel type II). Five of these duplications were symmetrical and four were asymmetrical with an associated proximal delta phalanx. In these cases, a corrective osteotomy of the delta phalanx was performed at the same time. Four cases involved symmetrical duplications of both proximal and distal phalanges (Wassel type IV). The mean age at time of surgery was 11.5 months. Patients were reviewed with a mean follow-up of four years. The aesthetic aspect of the nail was judged as good in 12 cases. In one case, the aesthetic aspect of the nail was judged as fair due to a prominent longitudinal ridge. Bony fusion was obtained in all cases but one. The alignment was corrected in all cases but four, involving asymmetrical duplications. Joint mobility was limited in all patients. The "Bilhaut-Cloquet" technique leads to a satisfactory volume of the thumb in selected cases. Good correction of preoperative angular deformity is obtained in symmetrical cases. A precise technique of bone and nail approximation yields good functional and aesthetic results. The "Bilhaut-Cloquet" technique is indicated in balanced and symmetrical duplications, when the two thumbs are severely hypoplastic. It can be used either in the distal or proximal phalangeal types of thumb duplication.
The typical cleft hand is now distinguished from symbrachydactyly. This review of the surgical treatment of 108 hands in 63 patients treated over a 28-year period concentrates upon the technical principles of surgical correction. The key to these reconstructions is a wide incision which extends from the ulnar side of the cleft around the malpositioned index finger to the thumb. This wide exposure provides clear identification of all anatomic structures within the palm. There are no tenuous flaps with narrow random pedicles. These difficult surgical corrections may often include index transposition, metacarpal and/or phalangeal osteotomies, joint releases, phalangeal ostectomies, preservation of the adductor pollicis muscle, first dorsal interosseous muscle release, syndactyly separation(s) and thumb duplication correction. Following reposition of all skeletal structures the dorsal and palmar full-thickness flaps are easily contoured to create a satisfactory first webspace. Outcomes data shows that although the pinch and grip remain weak, these hands are quite functional. It is important that the repositioned index ray not interfere with gripping and precision maneuvers between the mobile thumb and the ulnar two digits (ring and small) of the hand.
We report about a child with Jeune-syndrome in whom surgical enlargement of the thorax at the age of 4 months was performed. In the beginning there was a significant improvement of the respiratory situation. Due to resorption of the interposed ribs there was again a shrinking of the thorax and a deterioration in the child's condition. A reoperation at the age of 8 months couldn't improve the situation anymore, because at that time the child had already additional problems such as pulmonary hypertension and broncho-pulmonary dysplasia. We overview the literature and line out our opinion about the indication for surgical enlargement of the thorax in children with Jeune syndrome.
INTRODUCTION: The congenital hallux varus is a rare hereditary deformity of the big toe, which often is combined either with polydactylia or with systemic deformities of the skeleton. The congenital hallux varus can be easily diagnosed clinically. The X-ray shows the ossified bony elements and provides information about the shape and number of the digits as well as their axial deviation. An operative treatment is required. So far a standardized surgical technique has not been accepted for all types of hallux varus. METHODS: The correction of the bony structures and soft tissues is planned by means of preoperative scetches. The amount of correction depends on the degree of the deformity. As consequence of the reorientation of the first ray a soft tissue flap has to be planned and prepared for wound closure which otherwise would need larger grafts. RESULTS: Based on this series the clinical and radiological appearance of the congenital hallux varus are discussed. The operative treatment is explained step by step illustrated by photographs as well as planing scetches. Our procedures are compared to other operative methods reported in the literature. CONCLUSIONS: There are no diagnostic problems with the hallux varus deformity. For therapy surgery is mandatory and recommended between 9 and 24 months of age. For microsurgical preparation and correction of the deformity planning of all surgical steps and alternatives is advocated, this allows for good functional and cosmetic results.
Control of vertebrate digital pattern is a phylogenetically old mechanism. Animal strains with abnormal digital counts are a useful model system to study tissue, cell and molecular factors involved in limb patterning. The aim of this study was to investigate rat limb morphogenesis on gestation days 13 to 16 in normodactylous, polydactylous and oligodactylous fetuses where the deviation from the normal pentadactylous phenotype is caused by interaction of mutant Lx allele with different genetic backgrounds. General development was assessed by measurements of crown-rump length, and limb morphogenesis by hand and foot plate width. Skeletogenesis was studied histologically and by whole mount staining with Alcian Blue and Acridine Orange. Cell death was demonstrated by supravital staining and fluorescence microscopy and by standard histology on serial sections. No phenotypic differences among the groups were noted on day 13. On day 14, the oligodactylous hind limb buds were more spiky than normal and had well-developed preaxial necrotic site (foyer preaxial primaire) which was normally observed only on day 15. This area of programmed cell death was severely attenuated in polydactylous limb buds. Pollex triphalangy manifested as increased hand plate width from day 15. Also hind limb buds width differed by this stage between groups. No acceleration or retardation of skeletogenesis was observed in abnormal limbs. The data confirm the crucial role of spatial and temporal patterns of morphogenetic programmed cell death in control of digital pattern.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
We report a Japanese family with Greig cephalopolysyndactyly syndrome (GCPS), in which the grandmother, mother, and daughter were affected. They each had the same characteristics including bilateral seven toes, hypertelorism, and esotropia. Bilateral seven toes and esotropia had followed over three generations and have not previously been reported in this syndrome. The present case with bilateral seven toes and esotropia may be a new type.
Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause PHS and that functional haploinsufficiency of GLI3 causes GCPS. To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. The patient group consisted of 135 individuals: 89 patients with GCPS and 46 patients with PHS. We detected 47 pathological mutations (among 60 probands); when these were combined with previously published mutations, two genotype-phenotype correlations were evident. First, GCPS was caused by many types of alterations, including translocations, large deletions, exonic deletions and duplications, small in-frame deletions, and missense, frameshift/nonsense, and splicing mutations. In contrast, PHS was caused only by frameshift/nonsense and splicing mutations. Second, among the frameshift/nonsense mutations, there was a clear genotype-phenotype correlation. Mutations in the first third of the gene (from open reading frame [ORF] nucleotides [nt] 1-1997) caused GCPS, and mutations in the second third of the gene (from ORF nt 1998-3481) caused primarily PHS. Surprisingly, there were 12 mutations in patients with GCPS in the 3' third of the gene (after ORF nt 3481), and no patients with PHS had mutations in this region. These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis.