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PubMed1981

A clinical study of congenital anomalies of the hand.

The author has studied the clinical features of split hand, syndactyly, radial and ulnar ray deficiency, and brachydactyly. Many clinical findings make clear that typical split and is not a result of failure of formation but a result of union of digital rays. If we would try to classify congenital anomalies of the hand on the basis of embryological failure, syndactyly and split hand, and webbed and web free brachydactyly are never classified into other categories, just as constriction band syndrome is not divided by the presence of union of the digital rays.

Fingers↗
PubMed2006

[Fraser syndrome. A case report].

Fraser syndrome is a rare autosomal recessive disorder; the most consistent features are cryptophthalmos, syndactyly of fingers and toes, laryngeal stenosis, and urogenital abnormalities. We report a newborn case at day 1 of life who had multiple abnormalities, born from a consanguineous marriage. Clinically, the newborn had an ankyloblepharon on the left side, a cryptophthalmos on the right side, a syndactyly, anorectal abnormalities with ambiguous genitalia, laryngeal stenosis, and ear malformations. TDM of the cranium and orbits and the transfontanel ultrasound were normal. The abdominal ultrasound showed renal abnormalities. Right eye surgery showed a reduced cornea to an opaque thin plate clinging to the iris without an anterior chamber and a nonindividualized eyeball. The authors discuss the morphological abnormalities, the clinical and paraclinical aspects of this syndrome, its multispecialized clinical management, and the importance of prenatal diagnosis.

Abnormalities, Multiple↗
PubMed1979

Deformities of the hand and wrist with ulnar deficiency.

Deformities of the hand and wrist in 26 upper limbs of 20 patients with ulnar deficiency were studied. In eight limbs the ulna was totally absent. In the remainder it was severely or moderately hypoplastic. Abnormalities of the digits were present in all affected limbs. There was ectrodactyly in 25 hands. The thumb was hypoplastic in 21 hands and totally absent in five. Digital deformities also included syndactyly (14 hands) and delta phalanx (six hands). Early syndactyly release, pollicization, and rotational osteotomy of the metacarpals improved hand function in many of these patients. In only three of 26 limbs was there more than 20 degrees of fixed ulnar deviation at the wrist. In 16 patients the distal ulnar "anlage" was not removed. None of these patients developed ulnar deviation of the wrist or progressive deformity at the wrist during growth. Resection of the distal ulnar "anlage" does not appear to be warranted, unless there is progressive deformity of the wrist or elbow or increased bowing of the radius.

Abnormalities, Multiple↗
PubMed1996

Case report: hypoglossia-hypodactylia syndrome.

A case of hypoglossia-hypodactylia syndrome is described. The infant was characterized by micrognathia, accompanied by a defect of the gingiva, and hypoplasia of the tongue. There was defect in the right arm below the elbow. The right foot manifested syndactyly of the great, second and third toes and osseous fusion of the first and second metatarsi and proximal phalanges. In the left foot brachydactyly of the great and fifth toes, syndactyly of the second, third and fourth toes, hypoplasia of the first and second metatarsi and defect in the first phalanx were evident.

Abnormalities, Multiple↗
PubMed1999

The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases.

Two children are described with the combination of aplasia cutis congenita (ACC) and transverse limb defects known as Adams-Oliver syndrome. Whereas in the first child the typical features of ACC, syndactyly and transverse nail dystrophy were only mildly expressed and associated defects of the central nervous system and cardiac malformations were absent, the second child suffered from a very severe expression of the syndrome, with a combination of ACC, syndactyly, cutis marmorata telangiectatica congenita and multiple cardiac and central nervous system malformations which resulted in fatal central respiratory insufficiency.

Abnormalities, Multiple↗
PubMed1999

Abnormalities of developmental cell death in Dad1-deficient mice.

BACKGROUND: Dad1, the defender against apoptotic cell death, comprises the oligosaccharyltransferase complex and is well conserved among eukaryotes. In hamster BHK21-derived tsBN7 cells, loss of Dad1 causes apoptosis which cannot be prevented by Bcl-2. RESULTS: To determine the role of Dad1 function in vivo, we prepared by gene targeting, mice harbouring a disrupted Dad1 gene. Homozygous mutants died shortly after they were implanted with the characteristic features of apoptosis. In an in vitro blastocyst culture system, Dad1-null cells displayed abnormalities which were comparable to those obtained in vivo. However, oligosaccharyltransferase activity was apparently retained even after the Dad1-null cells were destined to die. Some live-born heterozygous mutants displayed soft-tissue syndactyly. Mild thymic hypoplasia was also indicated in heterozygotes. CONCLUSION: These results suggest the involvement of the Dad1 gene in the acquisition of a common syndactyly phenotype, as well as in the control of programmed cell death during development.

Animals↗
PubMedDate not supplied

Surgical management of the hand in Apert syndrome.

In patients with Apert syndrome, the hands demonstrate many disturbances of soft tissue and bony structures. These include a short thumb with radial clinodactyly, complex syndactyly with a bony fusion involving the index, long and ring fingers, symphalangism and simple syndactyly of the fourth web space. The soft tissue anomalies involve the intrinsic muscles, the extrinsic tendon insertions and the neurovascular bundles. We have reviewed 52 patients who underwent surgical reconstruction of their hands. The aim of this study is to propose a better surgical management in the light of recent publications and to improve our understanding of the syndrome, attempting to reduce the number of procedures and to select the best possible procedures for each patient.

Acrocephalosyndactylia↗
PubMed1981

[Syndactylism of the hand. Pathogenetic and therapeutic aspects (author's transl)].

The latest concepts of the genetics of isolated syndactyly are described in relation to a case in which the malformation could be traced back to four generations. The different principles of classification of syndactyly and the therapeutic possibilities are discussed, calling special attention to early operation in infants.

Adolescent↗
PubMed2000

Popliteal pterygium syndrome in a Swedish family--clinical findings and genetic analysis with the van der Woude syndrome locus at 1q32-q41.

The present study describes a Swedish family in which the mother and her son were affected with signs of popliteal pterygium syndrome (PPS, OMIM 119500). Both individuals had bilateral complete cleft lip and palate, oral synechiae, paramedian pits on the lower lip, toe syndactyly and a piece of triangular skin overgrowth on the great toes. The son also presented with soft tissue syndactyly of the 2nd and 3rd fingers. Although popliteal pterygium was not found, the above clinical features were diagnostic for PPS. Chromosomal abnormalities were not revealed in either case by cytogenetic analyses. A test for microdeletion in the VWS region at 1q32-q41 was performed in the family using 5 polymorphic microsatellite markers from the region. The affected son was found to be heterozygous for all 5 markers, suggesting that microdeletion at the VWS region was unlikely. The VWS locus, however, was not excluded by haplotype analysis of the family.

Abnormalities, Multiple↗
PubMed1998

Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.

Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation consisting of 3/4 syndactyly in the hands and 4/5 syndactyly in the feet, with digit duplication in the syndactylous web. The condition recently has been found to result from different-sized expansions of an amino-terminal polyalanine tract in HOXD13. We report a novel type of mutation in HOXD13, associated in some cases with features of classic SPD and in all cases with a novel foot phenotype. In two unrelated families, each with a different intragenic deletion in HOXD13, all mutation carriers have a rudimentary extra digit between the first and second metatarsals and often between the fourth and fifth metatarsals as well. This phenotype has not been reported in any mice with genetic modifications of the HoxD gene cluster. The two different deletions affect the first exon and the homeobox, respectively, in each case producing frameshifts followed by a long stretch of novel sequence and a premature stop codon. Although the affected genes may encode proteins that exert a dominant negative or novel effect, they are most likely to act as null alleles. Either possibility has interesting implications for the role of HOXD13 in human autopod development.

Chromosome Segregation↗
PubMed1998

A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.

Human synpolydactyly (SPD) is an inherited congenital limb malformation caused by mutations in the HOXD13 gene. Heterozygotes are typically characterized by 3/4 finger and 4/5 toe syndactyly with associated duplicated digits; hands and feet of homozygotes are very small because of a shortening of the phalanges, metacarpal and metatarsal bones. Here we describe the phenotype and molecular basis of a spontaneous mutation of Hoxd13 in mice that provides a phenotypically and molecularly accurate model for human SPD. The new mutation, named synpolydactyly homolog (spdh), is a 21 bp in-frame duplication within a polyalanine-encoding region at the 5'-end of the Hoxd13 coding sequence. The duplication expands the stretch of alanines from 15 to 22; the same type of expansion occurs in human SPD mutations. spdh/spdh homozygotes exhibit severe malformations of all four feet, including polydactyly, syndactyly and brachydactylia. The phenotype of spdh is much more severe than that exhibited by mice with a genetically engineered, presumably null, disruption of Hoxd13. Thus spdh probably acts in a dominant-negative manner and will be valuable for examining interactions with other Hox genes and their protein products during limb development. Homozygous mice of both sexes also lack preputial glands and males do not breed; therefore, spdh/spdh mice may also be valuable in studies of reproductive physiology and behavior.

Abnormalities, Multiple↗
PubMed1996

Congenital anomalies of the hand. The Asian perspective.

To have a better understanding of teratogenic mechanisms of congenital absence of digits, ulnar and radial deficiencies, cleft hand, and symbrachydactyly were analyzed in clinical cases. The same anomalies were induced in rat fetuses by busulfan, and their characteristics were investigated. The formation process of longitudinal deficiency also was observed histologically. There seemed to be 4 teratogenic mechanisms of congenital absence of digits. Ulnar and radial deficiencies have the same clinical features, and the cause of these deficiencies is related closely to a deficit of mesenchymal cells in the limb bud caused by the impairment before the formation of the limb bud. Cleft hand, central polydactyly, and osseous syndactyly were induced by the same treatment at the same developmental stage in rats. Cleft hand formation process from osseous syndactylies and central polydactylies was supposed. The teratogenic mechanism of cleft hand seemed to be failure of induction of digital rays in the hand plate. The sequence of anomalies from brachysyndactyly, or the atypical cleft hand, to the transverse deficiency can be regarded as equivalent to the category of bony dysplasia of the hand. Congenital constriction ring syndrome does appear after the formation of the digital rays.

Animals↗
PubMed2003

Two case reports of pollicization of a previously syndactylized index finger for congenitally absent thumb.

Two patients with absent thumbs and complicated syndactyly were successfully treated by pollicization of the index finger. Prior surgical release of the index finger syndactyly and then pollicization of that digit carries with it an increased risk of neurovascular compromise, adverse placement of surgical scars, and a stiff or unstable thumb. With caution, very satisfying reconstructive results can nonetheless be attained.

Abnormalities, Multiple↗
PubMed2005

Versatile use of the VM-plasty for reconstruction of the web space.

The loss of web space may be congenital or acquired. Although local skin flaps are usually preferred, recurrence rate is fairly high. In this study, we used the VM-plasty as a versatile technique to create a web space and expanded its applications. Thirteen patients (7 males and 6 females) with 22 syndactylous webs were operated on using this technique. The web contractures were developed on scarred tissues in 9 patients, whereas only 4 cases presented with primary congenital syndactylies. The skin graft was not used in any of the patients. All the patients gained web functions with a good esthetic appearance without any recurrence. The technique is fairly versatile and can be used both in the hand and foot for congenital complete or incomplete syndactylies and acquired web space contractures. So, we advise the VM-plasty both in primary and recurrent cases with web space loss.

Adolescent↗
PubMedDate not supplied

Congenital constriction band syndrome.

A retrospective study of 55 patients with congenital constriction band syndrome was performed. Multiple extremity involvement was found to be the most common clinical feature associated with the disease, and 34% of the patients studied were premature at birth. Malformations included constriction bands, clubfoot, intrauterine amputation, syndactyly, and acrosyndactyly (fenestrated syndactyly). The extremities were most often affected distally, involving the longer central fingers and medial two toes. More proximal involvement with constriction bands was associated with a higher frequency of neurologic deficit. Significant leg-length discrepancy exceeding 2.5 cm was seen in 9 of 38 patients (24%) with lower extremity involvement, a condition that has not been previously reported.

Abnormalities, Multiple↗
PubMed2006

Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12.

Syndactyly type II or synpolydactyly (SPD) is the second most frequent syndactyly type and is inherited in an autosomal dominant fashion. The cardinal features of this malformation are the cutaneous or bony fusion of third and fourth fingers, and fourth and fifth toes associated with additional digital elements within the web. It shows incomplete penetrance and high inter- and intrafamilial phenotypic variability. Two loci are known for SPD (MIM 186000, MIM 608180) associated with mutations in HOXD13 and FBLN1, respectively. Here, we report further genetic heterogeneity for SDP. Employing a whole genomic screen, we demonstrate, in a large Pakistani kindred, that the classical phenotype of SPD maps on a new locus at chromosome 14q11.2-q12. The highest LOD score (Z(max) = 4.06) was obtained with microsatellite marker D14S264, and the multipoint LOD score reached a maximum of 5.01. Haplotype analysis revealed that the disease interval is flanked by microsatellite markers D14S283 and D14S1060, encompassing a physical distance of 10.72 Mb. We propose to allocate to this locus the symbol SPD3 (synpolydactyly 3), and to name the loci associated with HOXD13 or FBLN1 mutations SPD1 and SPD2, respectively.

Chromosome Mapping↗
PubMed1990

Growth of the early bovine fetus.

Testing for bovine hereditary syndactyly used artificial insemination, superovulation, and embryo transfer. Thirty-two suspect bulls and 9 suspect cows were mated with 10 syndactyly cows and two syndactylous bulls, respectively. 209 embryos were recovered and one, two, or three embryos was/were transfered into each recipient cow and 56 to 77 days after transfer, 174 fetuses were recovered. There was a significant relationship between amniotic fluid weights from the left uterine horn, fetal weights from right and left uterine horns, and fetal sex, side of corpus luteum, and number of embryo implants. Fetal membrane weights, amniotic fluid weights, fetal weights, and crown-rump lengths increased significantly with fetal age, but recipient cow weight had no significant effect. Survival data from single, double, and triple embryo implants indicated that it was most profitable under these test conditions to implant two embryos per recipient cow, one in each uterine horn.

Animals↗
PubMed1979

Ankyloblepharon filiforme adnatum.

Two cases of ankyloblepharon filiforme adnatum in siblings are presented. One sib had associated cleft lip and palate, the other had bilateral syndactyly of the second and third toes. Father, paternal grandmother, and great-grandmother all had bilateral syndactyly of the second and third toes. Cases of ankyloblepharon filiforme adnatum reported in the ophthalmic literature are reviewed as are cases of ankyloblepharon occurring as part of the popliteal pterygium syndrome. It is postulated that the association of ankyloblepharon with other abnormalities may be part of the spectrum of the popliteal pterygium syndrome with autosomal dominant inheritance, incomplete penetrance, and variable expressivity.

Abnormalities, Multiple↗