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PubMedDate not supplied

Desyndactylization of the first and second toes using full-thickness autologous skin graft from the ankle.

We present a unique case of congenital bilateral simple syndactyly of the first and second toes that was surgically treated using a full-thickness skin graft harvested from the same foot at the lateral aspect of the ankle. This surgical approach eliminates the potential need to involve another surgical team to harvest a donor graft from above the ankle, saving operating room time, anesthesia time, and overall cost to the patient. Cosmetically, scar formation above the ankle is also eliminated.

Adolescent↗
PubMed1999

Full-thickness skin graft from the ulnar aspect of the wrist to cover defects on the hand and digits.

Skin defects on the volar surface of the hand and digits are commonly treated with skin grafts. Many donor sites capable of providing adequate skin have already been reported. Ideal conditions for the donor site depend on skin color, texture, durability, and size. The authors describe the use of a new donor site for harvesting skin grafts to repair relatively small skin defects on the hand and digits. They used full-thickness skin grafts from the ulnar aspect of the wrist to reconstruct burn contractures and syndactyly in 20 patients. Their grafts provided an ideal color and texture match, and normal function of the hand and digits was restored. The donor site was closed directly, and the resulting scar was inconspicuous.

Burns↗
PubMed1999

Mutchinick syndrome in a Japanese girl.

We report on a 7-year-old Japanese girl with Mutchinick syndrome, a rare congenital malformation syndrome described in a pair of Argentinean sisters and a pair of German brothers; both originating from the same geographic region in the former East Prussia. The girl we describe had most of the clinical manifestations of the syndrome, including growth and developmental retardation, and craniofacial anomalies with microcephaly, hypertelorism, a broad straight nose, low-set malformed ears, and a wide, tented mouth. She also had the following hitherto undescribed manifestations: ventricular septal defect, palmoplantar hyperkeratosis, bilateral partial soft-tissue syndactyly of second and third toes, and megaloureters. The occurrence of the syndrome in a Japanese girl indicates that the syndrome is not restricted to the descendants of individuals from a confined region in northeastern Europe.

Abnormalities, Multiple↗
PubMed1999

A girl with ectodermal dysplasia, choanal atresia and polysyndactyly.

We present a 3-year-old child with clinical features of ectodermal dysplasia comprising sparse hair, dystrophic and ridged nails and bilateral obstruction of the nasolacrimal ducts. Additional findings were unilateral choanal atresia, bilateral syndactyly of the feet and polydactyly. We discuss the differential diagnosis of these clinical findings.

Abnormalities, Multiple↗
PubMed1999

Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36.

Triphalangeal thumb-polysyndactyly (TPT-PS) is an isolated limb malformation consisting of pre- and postaxial polysyndactyly of hands and feet. The only family reported so far is of Dutch origin, and the genetic mapping study localized the TPT-PS locus at chromosome region 7q36 where the isolated triphalangeal thumb (TPT) anomaly has also been mapped. It was suggested that TPT-PS is a phenotypic variation of isolated TPT, and the same ancestral mutation may produce both phenotypes. Here we report on the second family with this malformation from the Turkish population. The characteristic findings in this family are triphalangeal thumb, webbing between 3rd, 4th, and 5th fingers associated with bony synostosis in the distal phalanges of the same fingers, and pre- and postaxial polysyndactyly of feet. Some individuals show a more severe phenotype with a complete syndactyly of all fingers giving a "cup-like" appearance to the hands. Genetic linkage study with DNA markers D7S1823, D7S550, D7S559, and D7S2423 demonstrated that this family is also linked to chromosome band 7q36. Identification of a second family from a distinct ethnic background suggests that TPT-PS and isolated TPT are not caused by the same ancestral mutation as it was originally anticipated.

Chromosomes, Human, Pair 7↗
PubMed1999

Dancing girl flap: a new flap suitable for web release.

To create a deep web, a flap must be designed to have a high elongation effect in one direction along the mid-lateral line of the finger and also to have a shortening effect in the other direction, crossing at a right angle to the mid-lateral line. The dancing girl flap is a modification of a four-flap Z-plasty with two additional Z-plasties. It has a high elongation effect in one direction (>550%) and a shortening effect in the other direction at a right angle (<33%), creating a deep, U-shaped surface. This new flap can be used to release severe scar contracture with a web, and is most suitable for incomplete syndactyly with webs as high as the proximal interphalangeal joint.

Adult↗
PubMed2000

Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?

We report on two patients with clinical manifestations consistent with a diagnosis of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC). Both showed macrocephaly with high forehead, overgrowth, capillary hemangiomata involving philtrum, nose, and lips, and redundant skin. In addition, the first had cutis marmorata and joint laxity. The second had postaxial polydactyly of hands and feet, cutaneous syndactyly of third and fourth right fingers and of second and third right toes without evident cutis marmorata. A magnetic resonance imaging scan showed cerebral alterations in both patients. The first had bilateral cortical dysplasia with frontal bilateral myelinization defect of corona radiata. The second had mild intertonsillar widening, cavum septi pellucidi, small porencephalic areas in the anterolateral region of cellae, and subsequently developed a nonobstructive hydrocephalus. Reviewing all reported cases we propose a new criterion for M-CMTC diagnosis.

Abnormalities, Multiple↗
PubMedDate not supplied

A Turkish family with Greig cephalopolysyndactyly syndrome.

Greig cephalopolysyndactyly syndrome is a very rare autosomal dominant disease characterized by postaxial polysyndactyly of hands, preaxial polysyndactyly of feet and peculiar facial features, and has been shown to be due to mutations in the GLI3 gene. We present clinical findings of a 39-year-old man and his nine-day-old daughter with Greig cephalopolysyndactyly who showed variable expression with regard to syndactyly of fingers and toes. The role of obstetric ultrasonography in the prenatal diagnosis of the syndrome is also discussed.

Adult↗
PubMed1992

[The heart-hand syndrome. A new variant of disorders of heart conduction and syndactylia including osseous changes in hands and feet].

A male infant was born at the 36th week of gestation by cesarean section because of an intrauterine bradycardy. There was a 2nd degree a. v.-bloc postnatal. The heart rate was normal after the 5th day of life with a QT-interval of 150 percent resp. 120 percent after the 15th day. Additionally there were syndactylies of hands and feet. The infant suddenly died at the age of 5 months. Examination of the parents revealed a QT-interval of 115 percent as well as synostoses of the carpus in the father. These microsymptoms are very important for genetic counseling of the family. There is a recurrence risk of 50 percent for further children because a dominant trait is to be suggested.

Electrocardiography↗
PubMedDate not supplied

Fraser's syndrome.

A full term female baby at birth showed the features of Fraser's syndrome viz. upper lid coloboma, cryptophthalmos, abnormal groove over temporal region, dysmorphic facies, hypospadias and bilateral syndactyly. On ultrasound examination of the abdomen and left orbit, maldeveloped kidney and eyeball were found. Other siblings were not affected. The child died at the age of 3 months.

Abnormalities, Multiple↗
PubMed2003

Fraser-Cryptophthalmos syndrome with cardiovascular malformations: a rare association.

Fraser-Cryptophthalmos syndrome is a multiple malformation disorder associated variably with cryptophthalmos (hidden eye), anomalies of the head, nose and ears; syndactyly, renal and genital malformations. In this report, we describe a case of Fraser syndrome with cardiovascular malformations: coarctation of aorta, an association not previously described.

Abnormalities, Multiple↗
PubMed2004

Filippi syndrome: two cases with ectodermal features, expanding the phenotype.

We report two unrelated children with Filippi syndrome. Both show typical facial dysmorphism, syndactyly of fingers and toes, growth retardation, postnatal microcephaly and developmental delay, particularly involving speech. In addition both children have unusual teeth and hair. We review the literature and propose that neurological and ectodermal involvement may be under-recognised features of the syndrome.

Adolescent↗
PubMed2004

Hypotriploidy 68,XX: a new case report and review of earlier cases.

We report a prematurely born patient with a 68,XX karyotype. She presented with syndactyly of 2nd and 3rd toes, minor facial features, microcephaly, slender hands, bicuspid aortic valve, patent ductus arteriosus and hypotonia. Comparison with other reported cases is given.

Aortic Valve↗
PubMed2005

STARplasty for reconstruction of the burned web space: introduction of an alternative technique for the correction of dorsal neosyndactyly.

INTRODUCTION: Significant hand burns frequently result in dorsal neosyndactyly, despite appropriate wound care, excision/grafting, and occupational therapy. Patients often develop limited abduction, tethered flexion/extension, intrinsic tightness, and inversion of the web space. We present a new technique for neosyndactyly release: the STARplasty (Syndactyly Treatment After Release), named after the appearance of the reconstructed web. METHODS: We performed a retrospective review of 25 patients who underwent 66 web space reconstructions by a single surgeon, from January 2002 to December 2003. The STARplasty was developed prior to the study period, with the following goals: to use local tissue, negate the need for a skin graft, and permit early range of motion. Combined with longitudinal, transverse, and oblique releases, STARplasty uses a single volar flap, harvested from each sidewall of both proximal phalanges, with 30-degree corners. STARplasty simultaneously deepens and widens the web space while correcting the angle of inclination. RESULTS: Sixteen patients (mean age: 34 years; range: 3-62 years) underwent a total of 33 STARplasties, an average of 37 months after burn injury. Mean area resurfaced per web was 5.2 cm, which contrasts with the 33 non-STARplasty reconstructions, which were used to resurface a mean area of 19.4 cm (P < 0.05) and included 5-flap z-plasties (17), full-thickness skin graft (10), 2-flap z-plasties (3), and advancement flaps (3). No complications occurred in the STARplasty group, including infection, flap loss, dehiscence, nerve injury, or recurrent contracture. All patients had improved function (mean follow-up: 6.7 months; range: 1-18 months). CONCLUSIONS: STARplasty is a new, safe, and efficacious technique to correct dorsal neosyndactyly and reconstruct the web space after burn injury.

Adolescent↗
PubMed1991

Anomalies of the fingers and toes associated with Klippel-Trenaunay syndrome.

Klippel-Trenaunay syndrome is a rare congenital malformation characterized by a large angiomatous nevus; hypertrophy of soft tissue or overgrowth of bone, or both; and venous varicosities. The cases of 108 patients who had a diagnosis of this syndrome between 1956 and 1990 were reviewed. One hundred and twenty-six anomalies were found in twenty-nine patients, each of whom had one to thirteen malformations of the fingers or toes, or both. The ratio of female patients to male patients was approximately two to one. Twenty-six patients had macrodactyly affecting one to six digits; nine, syndactyly involving two or more digits; five, metatarsus primus varus; two, clinodacytly; two, polydactyly; one, camptodactyly; and one, a congenital trigger finger. Thirty-three of the 126 anomalies were in extremities that had no nevi, varicose veins, or generalized hypertrophy.

Adolescent↗
PubMed1975

[Case of pseudopseudohypoparathyroidism].

A case of pseudo-pseudo-parathyroidism, in which normal blood chemistry data were accompanied by marked shortening of the 4th metacarpus and metatarsus, and a suggestion of syndactyly, is reported.

Adult↗
PubMed1975

[Surgical treatment of congenital malformations of the hand].

The commoner and more important congenital deformities of the hand are reviewed, considering their clinical picture, indications and optimal age for intervention, operative technique, postoperative care, and results. It is stressed that the value of many of the procedures can be assessed only after several years, and often only at the end of the growing period. The following malformations are discussed: 1. Syndactyly: There are many patterns of deformity; fusion of fingers of unequal legnth and distal bony fusion with convergence are absolute indications for early separation (six months of age); in uncomplicated cases operation can wait until the second year of life. Correctly placed skin incisions are of great importance for the prevention of scar contractures; a zig-zag incision forms long triangular flaps for cover of the sides of the fingers, splitting up areas of full-thickness skin graft; the commissure is formed from either two triangular flaps or a single dorsal rectangular flap...

Biomechanical Phenomena↗
PubMed1975

[A case of endogenous familial hereditary malformation of both hands].

A case of congenital malformation of both hands in a 22 year old television-technician, who otherwise showed no abnormalities, is reported. In his case, a familiar incidence was observed constantly in all males for a period of nearly 200 years. The morphological picture of this malformation is as follows: left hand: postaxial oligodactyly with a cutaneous syndactyly of the third and fourth fingers accompanied by a V-shaped os metacarpale and a synostosis of the os triquetrum, os lunatum and possibly of the os pisiforme right hand: postaxial oligodactyly with an accessory hypoplastic third finger on the ulnar side with a common base of the proximal phalanx which was enlarged at the end and shorter than the others (symbrachybasophalanx). Os multangulum minus and os capitatum as well as os triquetrum and possibly also the os pisiforme showed a synostosis. Subjective symptomatology and further clinical investigations (Phonocardiogramm) revealed an associated heart disease. This kind of malformation of both hands is transmitted inclompletely only in males.

Abnormalities, Multiple↗