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At least 343 records · Page 19Linked to original sources
PubMed1981

Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome.

Nine cases with the hydrometrocolpospolydactyly syndrome (4 males, 5 females) from four unrelated families are presented. Leading symptoms of this rare disorder were hydrocolpos and postaxial polydactyly. Three affected girls had urinary hydrocolpos without vaginal septum or imperforate hymen, one had partial vaginal atresia, and one had no hydrometrocolpos. Glandular hypospadias and prominent scrotal raphe are added to the spectrum of malformations in this disorder in males. The literature is reviewed and problems in genetic counseling in this autosomal recessive disorder are discussed.

Abnormalities, Multiple↗
PubMed1980

Difficulties in classification of the short rib-polydactyly syndromes.

A case of "short rib-polydactyly" (SRP) syndrome (type II-Saldino-Noonan) with a detailed study of the bones, muscles and peripheral nerves in the extremities is presented. Analysis of the literature (35 cases with different forms of SRP) and the comparison of clinical, genetic and morphological data lead us to consider that different types of SRP may be related to different alleles of the same gene. Genetic heterogeneity (mutations of different genes) is also possible.

Alleles↗
PubMed1980

Short rib-polydactyly syndrome type I, Saldino-Noonan.

A case of the Saldino-Noonan type of short rib-polydactyly syndrome is reported. Although multiple internal malformations have been described in this syndrome, no significant visceral abnormalities were detected in this except for the hypoplastic lungs. A similar case was reported by Spranger et al. in 1974.

Autopsy↗
PubMed1979

Short rib-polydactyly syndrome, Majewski type, in two male siblings.

Two male siblings with a short rib-polydactyly syndrome, Majewski type (Majewski syndrome), are reported. To our knowledge, the present report is the first one of siblings each confirmed to be affected by Majewski syndrome, and it may therefore contribute to establishing the mode of inheritance.

Abnormalities, Multiple↗
PubMed1992

A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity.

A 2-year-old boy with typical features of the acrocallosal syndrome is presented. His parents are first degree cousins and their first pregnancy resulted in spontaneous abortion whereas the offspring of their second pregnancy was an anencephalic baby with bilateral post-axial polydactyly of the hands. The possibility of including anencephaly in the spectrum of the CNS malformations of the acrocallosal syndrome is suggested.

Abnormalities, Multiple↗
PubMed1983

Median cleft lip, polydactyly, syndactyly and toe anomalies in a non-Indian infant.

A case is reported of a child who presented with a median cleft of the lip and alveolus with polydactyly, a complex form of syndactyly and multiple toe anomalies. This is the fifth case to be reported with these features and the second case to be reported in a non-Indian patient. Our case is characterised by unique features, consisting of a complexity of hand anomalies in association with other facial anomalies such as median alveolar cleft, epicanthus, fusion of the tongue to the floor of the mouth and rare big toe anomalies.

Abnormalities, Multiple↗
PubMedDate not supplied

Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report.

A newborn boy is described with semilobar holoprosencephaly, cebocephaly with single nostril, median pseudocleft of upper lip, postaxial polydactyly, hypogenitalism, Hischsprung's disease and survival till the age of 13 weeks. Chromosomal analysis on lymphocytes was normal. Up to now, three other patients with this malformation complex have been described. Together with the present patient, they are apparently the first examples of a new malformation syndrome.

Abnormalities, Multiple↗
PubMed1993

Treatment of residual instability and extensor lag in polydactyly of the thumb.

Extensor indicis tendon transfers were used in six cases with residual deformity of the thumb in polydactyly. The indication was extensor lag and instability of the interphalangeal joint. At mean follow-up of three and a half years, normal stability was improved. Full extension was achieved in three cases and two cases also derived some benefits from this operation. Alignment was improved in five cases.

Child↗
PubMed1990

Three cases of syndactyly, polydactyly, and hypoplastic triphalangeal thumb: (Haas's malformation).

Three cases of a complex malformation of the hand involving syndactyly, polydactyly, and hypoplastic triphalangeal thumb are presented. In all three patients, six metacarpal bones and hypoplasticity of the thenar muscles were present. In one patient, both hands, except the most radial digits of the left hand, were completely fused by soft webs as reported by Haas and Ofodile. In two other patients, the extent of the webs differed from Haas's case, but one of them was similar to Ofodile's first case. In all instances the supernumerary digit had a triphalangeal configuration and the thenar muscles were hypoplastic, often associated with some degree of webbing.

Adult↗
PubMed1982

Antenatal detection of recurrence of Majewski dwarf (short rib-polydactyly syndrome type II Majewski).

Two cases of Majewski dwarfism are reported. both were the product of the same non-consanguinous marriage and each exhibited the key features of this syndrome: polysyndactyly, short ribs, cleft lip, disproportionately short tibiae and a normal pelvis. The first infant, a baby boy, died shortly after birth, whilst the second was detected prenatally by ultrasound and had female characteristics. Several skeletal dysplasias have been demonstrated in utero by ultrasound, but we believe this to be the first reported case of a Majewski dwarf detected by this method. In view of the difficulty in diagnosis of this syndrome comparison is made with other short rib-polydactyly syndromes.

Adult↗
PubMed1977

A postaxial polydactyly-dental-vertebral syndrome.

Three patients with postaxial polydactyly and other abnormalities of the hands and feet, hypoplasia and fusion of the vertebral bodies, and dental abnormalities are reported. Two were sisters born to normal unrelated parents; the other patient was the male offspring of a consanguineous marriage. We suggest that this constellation of abnormalities represents a recessively inherited syndrome.

Abnormalities, Multiple↗
PubMed1978

Polydactyly and the triphalangeal thumb.

Polydactyly associated with triphalangeal thumb is not rare, as among the records of 1,269 patients with congenital deformation of the upper extremity at the University of Iowa there were 21 patients with 32 hands with such involvement. More detailed classification based on Wassel's work was made. Treatment should be early, with removal of the radial digit if equal in size, excision of all accessory parts including delta bone when present, reconstruction of joint ligaments or joint fusion and osteotomy for correction of deviations. Care should be taken to avoid leaving a narrow first web space.

Abnormalities, Multiple↗
PubMed1980

Experimental study on pathogenesis of polydactyly of the thumb.

The pathogenesis of polydactyly of the thumb was investigated by administration of single dose of cytosine arabinoside (ara-C, 100 mg/kg) to pregnant SD rats on day 11. Marked growth discrepancy between ectoderm and mesoderm of the limb bud was observed both morphologically and biochemically 24 hours after treatment. The growth discrepancy was induced by interference with proliferation process of mesodermal cells. The different susceptibility of ectodermal cells and mesodermal cells to the teratogenic agent was found to depend on the stage difference of cellular differentiation of each tissue. Cephalocaudal asymmetry of the limb bud, as well as relative overgrowth of ectodermal tissue, was postulated to be the cause of protrusion of the preaxial border of the limb bud, which was an initial sign of extra first digit formation.

Abnormalities, Drug-Induced↗
PubMed1984

Polydactyly of the thumb: a surgical plan based on ninety-five cases.

Preaxial polydactyly constitutes the most common group of congenital anomalies of the hand among the Chinese population of Hong Kong. Ninety-five cases from the Orthopaedic/Plastic and Reconstructive Surgery Unit, Princess Margaret Hospital, Hong Kong (March 1976 to March 1981), were reviewed. The cases were classified according to Wassel's classification (1969) into seven types. The most common category was type IV followed by types II, V, III, VII, I, and VI. The treatment of each type was analyzed. Bilhaut's procedure was satisfactory for type I, and a modified technique was used for types II and III. A method of shaving the incongruous articular cartilage was used in type IV. Removal of the extra digit and osteotomy of the metacarpal usually were required for type V. The experience with types VI and VII was too limited for assessment. Short-term results (1 to 6 years) have been satisfactory, but follow-up until skeletal maturity to assess the ultimate functional and cosmetic results is necessary.

Adult↗
PubMed1993

Heterotopic finger transfer in ulnar ray deficiency associated with contralateral postaxial polydactyly: a case report.

A case of type-I ulnar ray deficiency, combined with postaxial polydactyly of the opposite hand, is described. Heterotopic transfer of the supernumerary finger was performed, in order to improve function in the defective hand and to treat the hexadactyly of the other hand. A combination of these malformations has apparently not previously been reported in the literature.

Abnormalities, Multiple↗