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PubMed1993

Syndactylies and polydactylies: embryological overview and suggested classification.

In 1978, Temtamy and McKusick classified isolated, non-syndromic polydactyly and syndactyly, using a logical anatomical approach, into five distinct types for each group. Since then, there have been considerable advances in the molecular embryology of the developing limb bud. These include the proposal that retinoic acid and/or related retinoids are the morphogens responsible for the morphogenetic gradient giving rise to anterior-posterior pattern formation of the limb bud, the suggestion that the HOX4 complex and other homeotic genes may also be involved in patterning, and a greater understanding of other mechanisms such as programmed cell death in the shaping of the final hand and foot. This paper briefly reviews the molecular embryology of limb development and outlines the 'end-organ responsiveness' of the limbs to a variety of single-gene mutations. An alternative classification of syndactylies and polydactylies is suggested. It is still too early to match specific defects to individual genes with precision, and it is obvious that many important developmental genes remain to be identified; nevertheless, it is envisaged that clues from molecular embryological studies will become increasingly more useful.

Animals↗
PubMedDate not supplied

Rectangular flaps technique for treatment of congenital hand syndactyly.

The authors analysed a series of 22 patients undergoing surgical correction of congenital hand syndactyly by the rectangular flap technique. Using our evaluation method, we found that good functional and aesthetic results were obtained in 77.3% of the patients, with a complication rate of 13.6%. We concluded that the rectangular flap technique has a simple design, is easily reproducible by in-training staff, has good results, and can be applied on the majority of the syndactyly cases.

Adolescent↗
PubMed1994

Syndactyly and intracranial arteriovenous malformation: case report.

A case of a 14-year-old boy with syndactyly of all limbs and intracranial dural arteriovenous malformation (AVM) is presented. A failure of differentiation of cerebral vessels, possibly at 3 weeks gestational age, is discussed along with several alternative theories relating to the pathogenesis of dural AVMs. The embryogenesis of syndactyly, occurring as an arrest of normal interdigital tissue regression at 5-7 weeks gestational age, is also reviewed. It is postulated that a single common intrauterine environmental insult of vascular origin occurring during the second month of gestation, is the reason for their simultaneous manifestation.

Adolescent↗
PubMed2001

[Reconstruction of nail folds by double pulp flap in congenital complete syndactyly release].

OBJECTIVE: To introduce a surgical approach for reconstruction of nail folds in congenital complete syndactyly release. METHODS: A narrow flap and a broad flap were raised on the common distal phalanx to cover the denuded nail-edge in 30 fingers of 15 cases whose webs were separated. RESULTS: All of the flaps were successfully transferred and survived. The reconstructed nail folds had satisfied figure in 21 out of 30 fingers. The nail folds in the other 9 fingers, covered by a broad flap in 2 fingers and by a narrow flap in 7 fingers, were a little smaller than normal. All of the 30 fingers had normal fullness of pulp and no twisty nails. CONCLUSION: The reconstruction of nail folds by double pulp flap can be performed with a one-stage technique, and the outcome is satisfactory, which make it as a good surgical approach to reconstruct nail folds in congenital complete syndactyly release.

Child↗
PubMed2002

Oculo-dento-digital dysplasia (OMIM *164200). Full manifestation of the syndrome in a 9.5 year-old girl and type III syndactyly in the father.

In this short report we present further evidence for the autosomal dominant pattern of inheritance with variable expressivity in the Oculo-Dento-Digital Dysplasia (OMIM * 164200). The full clinical manifestation of the syndrome was observed in a 9.5-year-old girl with contrasting mild manifestation (complete cutaneous syndactyly of fingers IV-V--type III syndactyly) in her father.

Abnormalities, Multiple↗
PubMed1992

Type II syndactyly or synpolydactyly.

A family with syndactyly type II or synpolydactyly is described. The autosomal dominant inheritance is confirmed by this pedigree. In combination of this anomaly a brachymesophalangia of the fifth finger was inherited by most family members. The duplicated phalanx was resected and the syndactyly separated in the proband with excellent functional and cosmetic results.

Abnormalities, Multiple↗
PubMed1992

[Dermatoglyphic changes in some human hereditary disorders: syndactyly].

The dermatoglyphic hand prints from 19 patients with different types of syndactyly were analysed. It was shown that some digital triradii and palmar lines were missing and replaced by only one triradius with common radiants and one main palmar line in patients with syndactyly. With fingers fused incompletely so called zygodactylous triradius and the main Z line may appear, instead of or alongside with them. It is proposed that the position of local cell death in the interdigital spaces is determined by positional information which is expressed in the system of polar coordinates.

Dermatoglyphics↗
PubMed2005

A simple method for characterising syndactyly in clinical practice.

Non-syndromic syndactyly is a heterogeneous group of limb malformations involving webbing of fingers and/or toes. There are at least nine non-syndromic types described in the literature. For the clinician and the genetic counsellor not having gathered experience with this malformation, it is rather tedious to identify the correct subtype for the patient's phenotype. We therefore present a protocol for clinical use, which visualises the malformation in a graphical way and thereby simplifies typing. In addition, this protocol provides a simple documentation system for reporting clinical data for new syndactyly families. It might encourage clinicians to report families that are still unclassifed and thus, helping to extend and improve the existing classification system.

Calcium-Binding Proteins↗
PubMed2006

Tissue expansion for reconstruction of an unusual form of complex syndactyly.

Tissue expanders can be used over the dorsum of hand and fingers to increase available tissue for flap coverage after release of syndactyly. Herein, we presented an 18-year-old man who had an unusual complex syndactyly in the middle and ring fingers of his right hand. He had also complete fusion of the proximal phalanges. In this report, we described the application of tissue expander to cover separated exposed bones.

Adolescent↗
PubMed1985

[Hereditary sclerodactyly and syndactyly].

A 61-year-old man is described with sclerodactyly of the hands and syndactyly of the second and third toes. Hereditary sclerodactyly is a rare condition, beginning in early youth with flexion contracture of the fingers. In this patient the skin of the fingers was sclerotic and thickened, and the dorsal skin of the hands was atrophic and dry. The condition did not progress nor did it show signs of Raynaud's phenomenon. Both feet showed syndactyly of the second and third toes. The family tree suggested autosomal dominant inheritance, with reduced penetrance since the grandfather of our patient was reported to have had a similar disease.

Genes, Dominant↗
PubMed1984

Isolated hypogonadotropic hypogonadism with syndactyly.

Although some skeletal malformations have been associated with hypogonadotropic hypogonadism, syndactyly, to our knowledge, has not. A 43-year-old man, with no family history of either condition, was identified as having isolated hypogonadotropic hypogonadism with syndactyly of the feet.

Adult↗
PubMed1984

Syndactyly induced by Janus Green B in the embryonic chick leg bud: a reexamination.

In an attempt to clarify the mechanism of production of the syndactyly induced by Janus Green B (JGB) we have studied the morphology and structural modifications of the chick embryo leg bud after JGB administration by means of neutral red vital staining, whole-mount cartilage staining and light microscopy and transmission and scanning electron microscopy. The results show that the well-known inhibition of interdigital cell death is accompanied by a precocious alteration of the epithelial tissue and especially of the epithelial-mesenchymal interface. 24 h after JGB administration the cells of the AER reduce the number of junctions and the basal ectodermal cells are detached into the mesenchymal tissue in zones in which the basal lamina undergoes disruption. In addition the interdigital mesenchymal cells diverted from the dying program are able to undergo a rapid differentiation into cartilage. It is proposed that the mechanism of production of JGB-induced syndactyly might be due to an alteration of the normal epithelial-mesenchymal interactions rather than to a direct inhibitory effect of the JGB on the dying program.

Abnormalities, Drug-Induced↗
PubMed1993

A case of bilateral dysplasia epiphysealis hemimelica associated with polydactyly and syndactyly.

Dysplasia epiphysealis hemimelica (DEH) on bilateral medial malleoli occurred in a boy who had polydactylies and syndactylies of all four limbs. Cases with both bilateral and symmetrical DEH affection as in this case seem not to have been reported previously in the literature. Dysplasia epiphysealis hemimelica complicated by congenital anomalies is extremely rare. A one-month-old boy of normal delivery had polydactylies of thumbs, small fingers, and great toes, and had symmetrical syndactylies of fingers and toes. At age eight, the patient reported swelling and tenderness on bilateral medial malleoli. Radiographs showed small blotches of radiopacity. Two years later, the radiopacities had enlarged to become typical of DEH.

Abnormalities, Multiple↗
PubMed1993

Syndactyly type 1 with cataracts and mental retardation.

We report a child affected by a malformation syndrome characterized by unusual facies, congenital cataracts, mental retardation, bilateral soft tissue syndactyly of the 3rd and 4th fingers and bilateral partial syndactyly of the 2nd and 3rd toes. The overall clinical picture in this patient is not similar to other cases previously reported.

Abnormalities, Multiple↗
PubMed1993

[A case of hypothalamic hamartoma with gelastic seizures, precocious puberty, poly- and syndactyly].

We reported a 6-month-old boy, patient of hypothalamic hamartoma with a rare association of poly- and syndactyly, which developed gelastic seizures and precocious puberty. His birth was complicated by poly- and syndactyly in both hands and polydactyly in both feet, but other physical signs were normal. At 5 month of age, he visited our hospital because of a suspected seizure. On admission, physical and neurological examinations revealed increased size in penis and testes, and delayed psychomotor development. Gelastic seizures occurred up to 100 times a day, and were resistant to many anticonvulsants. Ictal EEG showed bursts of generalized high voltage slow waves. His serum LH and testosterone levels were elevated for his age. Brain CT and MRI demonstrated a hypothalamic mass lesion, which proved to be hamartoma by biopsy.

Epilepsy↗
PubMed1995

Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes.

We report on 2 brothers from a consanguineous family from a small city of southeast Turkey. Both have bilateral anophthalmia, soft tissue syndactyly of the feet, bilateral partial synostosis of metatarsals IV and V, and basal synostosis of the fourth and fifth toes on the right in the older sib only, thus differing from all previously reported cases of anophthalmos-syndactyly syndrome.

Child↗