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PubMed1992

[Prenatal diagnosis of holoprosencephaly with postaxial polydactyly, cardiopathy with normal karyotype].

Holoprosencephaly is a malformation complex, in which the foetal forebrain (prosencephalon) fails to cleave. The aetiology of holoprosencephaly is heterogeneous. In the last years, a new malformation syndrome has been described, including holoprosencephaly, postaxial polydactyly, congenital heart defects and normal karyotype. In this report, a new case of this syndrome, prenatally diagnosed, is discussed, based on ultrasound and foetal blood sampling. The important implications are pointed out in relation to adequate genetic counselling.

Abnormalities, Multiple↗
PubMed1980

[Postaxial polydactyly: a symptom of partial trisomy of the long arm of chromosome 13. Two new observations with 46, XX, t (22;13) (q13;q31) and 46, XY, Dup (13) (pter-q34::q22-qter) (author's transl)].

Postaxial polydactyly represents an important manifestation of distal (partial) trisomy 13. We report on 2 patients with different chromosomal aberrations who share also mental deficiency, abnormal EEG, moderate dilatation of the 3rd ventricle and craniofacial dysmorphy.

Abnormalities, Multiple↗
PubMedDate not supplied

[Hallux varus congenitus in polydactyly patients].

The authors report on experience gained in the surgical treatment of eight patients with congenital hallux varus associated with polydactyly of the big toe. Aside from a description of the "radiological anatomy", the paper focuses in particular on the intraoperative soft tissue findings. In addition to the supernumerary bone structures, muscle and tendon anomalies were found in all the patients. In four patients the cause of the varus malposition was found to be fibrous stands extending from the rudimentary big toe to the tarsus. In five patients the abductor hallucis muscle was found to be shortened. An analysis of the surgical results shows that these soft tissue changes must be taken into account during surgery. In addition to complete removal of the polydactylic supernumerary, fibrous strands must be resected and shortened muscles severed or elongated. In many cases, operations on the basal joint capsule and plastic surgery are also necessary.

Abnormalities, Multiple↗
PubMedDate not supplied

Hereditary polydactyly in Simmental cattle.

Five breeding trials were conducted in an attempt to clarify the mode of inheritance of bovine polydactyly. Two trials involved polydactylous females, superovulation, embryo transfer, and early fetal recovery. The other three trials were father-daughter mating, mother-son mating, and polydactylous X polydactylous matings. The results suggest that the mode of inheritance of bovine polydactylism is polygenic, requiring a dominant gene at one locus and two recessive genes at another locus.

Animals↗
PubMed1985

Effective use of portions of the supernumerary digit to correct polydactyly of the thumb.

The purpose of surgery for polydactyly of the thumb is to ablate the supernumerary digit and to reconstruct a thumb with adequate function that approximates normal size and shape. A further aim is to prevent the occurrence of deformity in the future. To achieve these goals, one good thumb is reconstructed using portions from the supernumerary digit as follows: To increase the diameter of the reconstructed thumb, a skin flap is formed from the supernumerary digit. A portion of the joint from the supernumerary digit is used to correct joint deviation in the reconstructed thumb. The collateral ligament and abductor muscle are detached from the supernumerary digit with the bone fragment into which they are inserted, and transplanted together with the bone fragment into the reconstructed thumb. Osseous tissue to be used in open wedge osteotomy to correct longitudinal deviation is obtained from the phalanx of the supernumerary digit.

Child, Preschool↗
PubMed1987

Treatment of preaxial polydactyly of the foot.

Fourteen patients with preaxial polydactyly are classified into four types according to their morphologic configuration: type 1--ray duplication; type 2--completely duplicated phalanges; type 3--incompletely duplicated metatarsals; and type 4--incompletely duplicated phalanges. The surgical treatment and timing thereof appropriate for each group are discussed. Three cases of congenital hallux varus deformity are analyzed, focusing on the pathomechanism of this disorder. Based on our experience, two main factors are noticed in the etiology of congenital hallux varus deformity: inadequacy of the adductor hallucis and tightening of the fibrous band pulling the big toe into the varus.

Abnormalities, Multiple↗
PubMed2003

Unusual combination of limb malformations in the same patient: brachydactyly with syndactyly and postaxial polydactyly of the hands and postaxial oligodactyly of the feet.

We report on a case with polydactyly, syndactyly and brachydactyly of the hands and oligodactyly of the feet, but no other anomalies and normal chromosome analysis. We compared the findings in our case with those of brachydactyly B, Fuhrmann syndrome and Haas-type syndactyly. However, it was not possible to suggest a syndrome diagnosis in the present case.

Female↗
PubMed2007

Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?

Three siblings with postaxial polydactyly type A, congenital heart defect (single atrium), mental retardation, microcephaly, a distinctive facial appearance, skeletal anomalies and neonatal macrosomy were studied. Comparison with other cardiomelic syndromes previously described in the literature lead us to conclude that this is a new faciocardiomelic syndrome probably inherited as an autosomal recessive trait.

Abnormalities, Multiple↗
PubMedDate not supplied

Polydactyly of the foot.

One hundred twenty-five patients with 194 supernumerary toes were analyzed. Postaxial polydactyly accounted for 79%. Duplication at the proximal phalanx with either a block metatarsal or a wide metatarsal head was the most common anatomical pattern. Sixty-one patients with 97 duplications evaluated at an average follow-up of 15.1 years postoperatively had 94% excellent or good results. Poor results were often associated with preaxial duplications and persistent hallux varus. Patients with central duplications often had a persistently wide forefoot. Surgical treatment is usually straightforward, but must be individualized. Preoperative radiologic assessment is mandatory. Certain technical considerations are related to better results.

Child↗
PubMed1983

Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression?

A case of frontonasal dysplasia with coronal synostosis, pre- and postaxial polydactyly and longitudinally split nails is described. One relative shows a bifid thumb, and several others have a longitudinally split nail and/or mild facial dysmorphy. An autosomal dominant inheritance with widely variable expression of the mutant gene is suggested.

Abnormalities, Multiple↗
PubMed1984

Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis.

A family with absent tibiae, triphalangeal thumbs and polydactyly is described. Bilateral absence of tibiae is the most severe manifestation of this syndrome. The pedigree of this family suggests an autosomal dominant inheritance with variable expression. Prenatal diagnosis was made at 20.5 weeks of pregnancy. Fetal radiographs showed the presence of both tibiae; this finding was confirmed at birth.

Abnormalities, Multiple↗
PubMed1984

Preaxial polydactyly type 4: variability in a large kindred.

A five generation family with type 4 preaxial polydactyly is reported. The 21 affected individuals demonstrated variability in expression without apparent sex influence and penetrance which was complete. The deformities were more severe in the feet than the hands. Anteroposterior flatness of the thumbs was the only manifestation of the trait in the hands of several affected family members.

Adult↗
PubMed1985

Cortical blindness, growth and psychomotor retardation and postaxial polydactyly: a probably distinct autosomal recessive syndrome.

A 14-month-old female infant with a syndrome mainly consisting of cortical blindness, psychomotor retardation and postaxial polydactyly (type B in hands and type A in feet) was studied. Two deceased sibs were similarly affected. Differential diagnosis and the review of medical literature permit the individualization of a distinct syndrome with a probable autosomal recessive pattern of inheritance.

Blindness↗
PubMed1987

Encephalocele, polycystic kidneys, and polydactyly with other defects. A necropsy case of Meckel syndrome and a review of literature.

Meckel syndrome, which is diagnosed by 2 of 3 main congenital malformations such as a occipital encephalocele, polycystic kidneys, and polydactyly, is an autosomally inherited recessive disease. We have experienced a case of Meckel syndrome and performed necropsy. Necropsy findings revealed multiple congenital malformations with occipital meningo-encephalocele and agenesis of the cerebellum, 6 digits on the hands and feet, polycystic kidneys. The criteria of Meckel syndrome is still unclear. We propose that the diagnosis of this syndrome may be accompanied by the presence of all triad of main malformations. Ninety four cases satisfying this criteria have been reported in the world literature. Several discussion were made from a review of the literature.

Abnormalities, Multiple↗
PubMed1981

Rudimentary polydactyly (cutaneous neuroma) case report with ultrastructural study.

A case of rudimentary polydactyly (cutaneous neuroma) on the ulnar aspect of the left fifth finger of a 38-year-old male was examined and the skin was studied by light and electron microscopy. In addition to a proliferation of nerve fibers and encapsulated corpuscles, normal Merkel cells were often present in the basal portion of the epidermis. It is suggested that proliferation of various neural components is the essential feature of the affected skin.

Adult↗
PubMed1978

Autosomal recessive postaxial polydactyly type A in a Sicilian family.

Postaxial polydactyly type A was present in several members of a Sicilian family. The anomaly was probably transmitted as an autosomal recessive character. Two polydactylous subjects were also beta-thalassaemia carriers, but a linkage between the two mutant genes could be excluded. Two patients with hexadactyly had a fifth digital triradius.

Adult↗