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PubMed1983

Pectus excavatum and polydactyly; an innocent syndrome.

A number of potentially serious congenital cardiac defects are associated with polydactyly. Of these, the best-known is that of Holt-Oram (Sanz 1973; Poznanski et al 1971, 1973) because of its surgical implications, described by Rainer (1972). Familial association has been reported by Yujnovsky (1974) with Polydactyly in three generations. It is the purpose of this report to record a case of accessory thumb and pectus excavatum in an otherwise healthy young woman of normal karyotype who asked that the extra thumb be removed for cosmetic reasons.

Adult↗
PubMed1985

Rudimentary polydactyly: report of five cases.

Rudimentary polydactyly was found in five patients. Surgical exploration of the papules revealed findings that have not been previously published. A cord-like structure arises from the bottom of the papule, with its proximal portion joining the neurovascular bundle of the digit. Histologic examination of the cord showed strong similarity to the neurovascular bundle of a finger. From these findings, we assume that rudimentary polydactyly may represent the amputation stump of pedunculated fingers.

Child↗
PubMed1987

[Short stature, mental retardation, type I preaxial polydactyly with colobomatous abnormalities: a new syndrome].

A syndrome which consists of growth retardation, mental deficiency, preaxial polydactyly and colobomatous anomalies was observed in two sibs and might have been transmitted by an autosomal recessive mutation. In the brother there is an incomplete coloboma of the optic nerve head, in the sister a coloboma of the iris, optic nerve head, choroid, and retina. Polydactyly is unilateral. Similar observations have been quoted but no identical case seems to have been published.

Adolescent↗
PubMedDate not supplied

X-linked polydactyly (Xpl), a new mutation in the mouse.

A new X-linked dominant mutation in the mouse exhibiting preaxial polydactyly and tibial hemimelia is described and named X-linked polydactyly (Xpl). Linkage tests show that Xpl is located on the distal end of the X chromosome with the order Ta--13--jp--15--Xpl.

Animals↗
PubMedDate not supplied

Polydactyly lethal: a new mutant spontaneously occurring in the FPL strain of rats.

A new mutant gene that causes preaxial polydactyly in the hindlimbs was found in the strain of rats with fused pulmonary lobes (fpl). Genetic analysis has revealed that the new mutation is inherited as an autosomal recessive trait and is not closely linked with the fpl gene. Since homozygous mutants die within the first 2 days after birth, the mutant gene was named polydactyly lethal, gene symbol pl. A test for allelism between the pl gene and another gene, pd, which also causes preaxial duplication anomalies, showed no allelism between these two genes. Skeletal examination revealed that all pl/pl newborns had thickening and/or bifurcation of tarsal I and metatarsal I, as well as duplication of the proximal and distal phalanges of digit I in the hindlimbs. In some cases, phalangeal duplication or bifurcation in digit I with thickening of metacarpal I was also found in the forelimbs, although extra forelimb digits were not detected externally. The pl/pl newborns showed hunchback-like abnormal posture externally and had several associated vertebral abnormalities in varying degrees, i.e., kyphosis, scoliosis, splitting of the thoracic vertebral bodies, and fusion of the lumbar vertebral bodies. No major malformations were seen in the visceral organs. The cause of neonatal deaths has not yet been determined.

Alleles↗
PubMed2003

Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia.

We report on two cases (male twins), and a female sib terminated at 20 weeks, whose autopsy revealed features of spondylothoracic dysplasia (STD) and also a diaphragmatic hernia and preaxial polydactyly. We present the findings and review STD and the closely related spondylocostal dysostosis. On the basis of the discussion we suggest that our cases are possibly the first report of preaxial polydactyly in spondylothoracic dysplasia and that STD and spondylocostal dysostosis may be allelic.

Abnormalities, Multiple↗
PubMed1980

A and B postaxial polydactyly in two members of the same family.

Two cases of previously unreported simultaneous presence of A and B postaxial polydactyly in two brothers out of 12 affected members of a kindred are reported. The findings are consistent with the hypothesis that in this family A and b types of postaxial polydactyly are caused by a single gene rather than by two different genes.

Adult↗
PubMed1984

Fetoscopy in prenatal diagnosis of the Majewski and the Saldino-Noonan types of the Short Rib-Polydactyly syndromes.

Fetoscopy was performed in three pregnancies at risk for the Majewski syndrome and in one pregnancy at risk for the Saldino-Noonan syndrome of the fetus. One case of Majewski syndrome and two normal fetuses were correctly diagnosed. In the remaining case the amniotic fluid was blood-stained and the fetus could not be visualized. Patients previously carrying a fetus with a Short Rib-Polydactyly syndrome of the Majewski or Saldino-Noonan types are at a high risk of recurrence (25%) and should be offered prenatal diagnosis in subsequent pregnancies. Polydactyly is consistently present in these syndromes, and is easily seen through the fetoscope. Fetoscopy offers a safe and instant diagnosis as early as 15-16 weeks of gestation.

Adult↗
PubMed1975

Polydactyly and brachymetapody in two English families.

Two new pedigrees of polydactyly associated with brachymetapody are discribed. In one the two defects occur in different members of the family, while in the other both occur in the same individuals. Both anomalies appear to be inherited as dominants, the polydactyly showing incomplete manifestation.

Adult↗
PubMed1976

Hereditary index finger polydactyly: phenotypic, radiological, dermatoglyphic, and genetic findings in a large family.

Index finger polydactyly in a Turkish family is reported. The transmission of the malformation fits the pattern of regular autosomal dominant inheritance. Some of the affected individuals had one or two phalanges on their first digits, but all had triphalangeal second fingers. Subjects with polydactyly had very interesting dermatoglyphs, such as an extra a triradius under the super-numerary index finger, the proximal radiant of this triradius (an extra A-line) ending on the radial border of the hand, and arch tibials in the hallucal areas. The carpal bones, beginning with os multangulum majus, or alternatively with the extra one were articulated with two metacarpals. A similar finding was found in the feet.

Dermatoglyphics↗
PubMed1976

The study of genetic variation in Nigeria. II. The genetics of polydactyly.

The analysis of polydactyly in the Nigerian population has revealed a frequency of 22.78 per thousand, with slight variations from one region of the country to another. All polydactyly was post-axial and most was of type B. Although we expected this frequency to be the same in both males and females, we observed that females have a significantly lower frequency (17.92 per thousand) than the males (27.08 per thousand). This condition appears to be inherited as an autosomal dominant gene with a penetrance of 64.9%, and highly variable expressivity. There does not seem to be any phenotypic difference between individuals who are homozygous and those who are heterozygous for the gene.

Chromosome Aberrations↗
PubMed1993

Asymptomatic large hypothalamic hamartoma associated with polydactyly in an adult.

A hypothalamic hamartoma is a congenital tumor-like neural malformation. It is usually seen in children and is associated with neuroendocrinological symptoms, seizures, or psychological impairments. An asymptomatic hypothalamic hamartoma in an adult is extremely rare. This report describes an asymptomatic adult with a large hypothalamic hamartoma associated with polydactyly in his feet. Both polydactyly and hamartoma are rare lesions; therefore, this may not be a coincidental presentation. It is thought to have occurred in the embryonic period presumably between 37 and 40 gestational days.

Adult↗
PubMed1980

Polydactyly Nagoya, Pdn: A new mutant gene in the mouse.

A new hereditary polydactyly (gene symbol Pdn) was found in the course of breeding JCL : ICR mice. The genetic analysis indicated that the polydactyly was an autosomal dominant trait. The homozygotes died within two days after birth. The homozygous fetuses or newborn had 1-3 extra-digits both in te fore- and hindlimbs on the preaxial side. They occasionally showed exencephaly, cleft palate, open eyelid, short tibia and fibula or deformed sternum. The heterozygotes had one extra-digit preaxial side. They occasionally showed exencephaly, heterozygotes had one extra-digit preaxially in the hindlimb and an enlarged first digit on the forelimb which often showed bifurcated distal phalanx. A tab on the postaxial side of the forelimb was found in all homozygotes and in some heterozygotes.

Animals↗
PubMed1992

Postaxial polydactyly. A case report.

Polydactyly is a fairly common congenital foot deformity. Treatment may include simple shoe modification or surgical intervention. Careful preoperative planning must be undertaken with each patient because of the uniqueness of each individual case. A case of type A postaxial polydactyly was presented with a brief review of classification, etiology, and treatment.

Adult↗
PubMed1998

[A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin-resistant diabetes mellitus].

A case of familial Bardet-Biedl syndrome (BBS) in a 64-year-old woman is presented; it is characterized by abdominal obesity (BMI: 38.28; WHR: 0.98), slight mental retardation, polydactyly, pigmentary retinopathy and moderate renal failure, with insulin-resistant diabetes mellitus and severe inflammation of the left limb with necrosis of the last toe (the sixth) of the left foot. Four brothers and sisters of the patient presented the same syndrome. The patient had had healthy offsprings. The review of current literature indicates that BBS is a genetic autosomal recessive disease, formerly grouped with Laurence-Moon-Biedl syndrome but today considered as a separate entity. It is characterized by obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism in males, and renal structural abnormalities or functional impairment. Extra- and intrafamilial variability of expressivity and severity of the various clinical manifestations was reported, among affected families and also in the same family. BBS is a rare but important syndrome, that should be known by the endocrinologist and the specialist in internal medicine, because it has an adverse prognosis, with early onset of blindness, insulin-resistant diabetes mellitus and severe renal impairment. Renal failure is a frequent cause of death early in life, even in the infant-juvenile years.

Diabetes Mellitus, Type 1↗
PubMed1975

Pathogenesis of preaxial polydactyly of the hand in human embryos.

Hand plates with preaxial polydactyly from 13 human embryos of the Carnegie stages 17-23 were examined macro- and microscopically. Morphological features in early pathogenesis of preaxial polydactyly are (1) an abnormal extension and a delayed involution of the apical ectodermal ridge on the preaxial border of the hand plate in stages 17 and 18, (2) a precocious development of an interdigital notch between the duplicated thumbs in stages 17 and 18, and (3) bifurcation of the distal part of the first digital ray in stage 19. A disorder of the interaction between limb ectoderm and mesoderm is considered to be the pathogenetic event.

Embryo, Mammalian↗
PubMed1976

Polydactyly: report of a large kindred.

The occurrence of polydactyly in a 33-year-old woman with a patent ductus arteriosus stimulated a study of her family. Four generations of her kindred were examined. No other case of congenital heart disease was discovered, but a large number of individuals with polydactyly were found. Inheritance of this trait is autosomal dominant.

Abnormalities, Multiple↗
PubMedDate not supplied

[The dermatoglyphic analysis of polydactyly and the segregation of the morphogenetic fields of the fingers in man].

We studied dermatoglyphic imprints of patients with preaxial or postaxial polydactyly. Development of the additional finger is shown to be always accompanied by the corresponding finger triradius and basic line; postaxial polydactylies are characterized by the circular epidermal ridges around the rudiment of the sixth finger and the presence of the second additional triradius. On the basis of these data we suggest that major lines of the palm and finger triradii serve as landmarks denoting the borders of individual morphogenetic fields of fingers during their segregation from general morphogenetic field of the hand which is related to the polar system of coordinates.

Dermatoglyphics↗