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At least 199 records · Page 11Linked to original sources
PubMed1994

The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome--a case report.

Hydrometrocolpos is a rare congenital anomaly and serious life threatening condition in the newborn infant due to its long-term compression sequelae and associated congenital anomalies. Prenatal diagnosis of hydrometrocolpos by sonogram allows appropriate management during the prenatal and neonatal period. The combination of hydrometrocolpos and polydactyly is the cardinal hallmark feature of McKusick-Kaufman Syndrome. We present a case of congenital hydrometrocolpos due to vaginal atresia combined with polydactyly of both feet, mild atrial septum defect, bilateral hydronephrosis, fetal ascites and polyhydramnios. Pathogenesis and treatment of hydrometrocolpos and its associated congenital anomalies are discussed.

Abnormalities, Multiple↗
PubMedDate not supplied

Beemer-Langer type short rib-polydactyly syndrome: report of two cases.

Two sibs who died shortly after birth had multiple congenital anomalies that included hydrops, narrow thorax, short limbs, and absence of polydactyly; therefore short rib (polydactyly) syndrome Beemer-Langer type was suggested. We report these cases and discuss the differentiation with Majewski type.

Abnormalities, Multiple↗
PubMed1993

[Polydactyly in the Old Testament].

The study of passage 2 Sam 21: 20-21 allows us to assert that the biblical writer registered a case of polydactyly, specifically a hexadactylia of the four limbs. The documental evidence certifies the presence of this orthopedic lesion in ancient times. It is probable that this was a case of post-axial, non crossed and non syndromic polydactyly.

Bible↗
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↗
PubMedDate not supplied

Hypothalamic hamartoma with gelastic epilepsy, precocious puberty and polydactyly.

An entity including gelastic epilepsy, precocious puberty, polydactyly and a hypothalamic hamartoma type IIa is described in a 16-year-old female patient. Polydactyly was detected at birth, she developed precocious puberty at four years of age, and gelastic epilepsy was diagnosed at age seven. The precocious puberty was successfully treated medically and her treatment was discontinued at the age of 10 years, but the gelastic seizures were difficult to control. When the patient was 11 years old, MRI revealed a hypothalamic hamartoma. The combination of these four features is very rare in the literature.

Adolescent↗
PubMed1996

[Polydactyly: a genetic epidemiological study in Santiago, Chile].

The aim of this work was to study the prevalence at birth and family aggregation of polydactyly in Chile. We studied 125,652 newborns between 1969 and 1991. The prevalence was 1,329 for each 1,000 live newborns and higher in males than in females. Familial recurrence was 22.5% and gene penetrance was estimated as 0.5 for the postaxial-A type and 0.3 for the postaxial-B type. Gene penetrance for postaxial-B type was higher in males. Estimation of gene frequencies and mutation rates gave the highest values for postaxial-B polydactyly.

Chile↗
PubMed1998

Finger polydactyly.

Polydactyly is one of the most common congenital differences. Duplications of the index finger, central rays, and small digit each have unique characteristics and associations. Complex anomalies such as the mirror hand and pentadactyly represent specialized forms of polydactyly. The goal of reconstructing a functional hand is met by appreciating the anatomic variations and systemic implications, then employing the challenging technical and intellectual concepts described.

Fingers↗
PubMed1997

[Hypoplasia of the tibia, polydactyly, and triphalangeal thumb: 1st family described in Venezuela].

Werner in 1915, described a patient is characterized by a tibial bilateral aplasia or hypoplasia, polydactyly and absent thumbs. Autosomal dominant inheritance is demonstrated, with variable expressivity. The objective of this work is to describe a child with clinic and radiologic signs of Tibial Hypoplasia with Polydactyly. The genealogic study allowed us to suppose that the gene has a variable expressivity, since in the maternal branch, malformations such as syndactyly of hands, proximal implantation of thumbs and tibiae vara, have been found. The clinic, radiologic, and genetic aspects are discussed.

Abnormalities, Multiple↗
PubMed1998

Short-rib-polydactyly syndrome type Verma-Naumoff-Le Marec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities.

Up to seven short-rib-polydactyly (SRP) syndromes have been identified so far with marked clinical and pathological overlap. We describe a 32-week-old, nonhydropic male fetus with thoracic "dysplasia," short limbs, and unilateral postaxial polydactyly. All internal organs were normally developed, including the central nervous system. The external genitalia were unambiguously male, in accordance with a 46,XY karyotype. Radiological signs most closely resembled those of SRP, type Le Marec, though histology of the femoral physeal growth zone was consistent with the Saldino-Noonan type. The remarkable lack of visceral anomalies in conjunction with the radiological and histological findings further adds to the phenotypic spectrum of the SRP syndromes. The histological analysis in this case supports a close relationship between types Saldino-Noonan and Verma-Naumoff-Le Marec.

Fetal Diseases↗
PubMed1980

Short rib-polydactyly syndrome, Majewski type.

A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2 (Majewski). The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial polydactyly. Microscopically, cartilage showed markedly stunted and disorganized endochondral ossification. Extraskeletal manifestations were hydrops, cleft lip, malformed larynx with hypoplastic epiglottis, pulmonary hypoplasia, glomerular and renal tubular cysts, ambiguous genitalia, pachygyria and small cerebellar vermis. Parental consanguinity supports the hypothesis of autosomal recessive inheritance of the condition.

Abnormalities, Multiple↗
PubMed1992

Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).

We report on a stillborn boy with frontonasal malformation (Sedano-Jiràsek type D-DeMyer type I), associated with encephalocoele, occipital meningocele and preaxial polydactyly of the feet. This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid, occipital encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. Most cases are sporadic.

Abnormalities, Multiple↗
PubMed1992

Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome.

Two infants with cystic kidney dysplasia and polydactyly were born to consanguineous parents. One infant died at age 2 months, and the other is currently 3.5 years old. A third pregnancy was terminated following ultrasonographic visualization of large echo-dense fetal kidneys and polydactyly. Although none had apparent brain anomalies, they were considered to represent the Meckel syndrome. Extinguished responses on electroretinography in our 3.5-year-old patient has led to the diagnosis of Bardet-Biedl syndrome. This observation offers an opportunity to revisit the Bardet-Biedl syndrome and provides further evidence that structural renal abnormalities are characteristic of the syndrome. We wish to alert the clinician to the diagnosis of Bardet-Biedl syndrome in patients with infantile cystic kidney dysplasia.

Cerebellar Diseases↗
PubMed1993

Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias.

We report on 3 individuals, a man and his son and daughter, who were born with preaxial deficiencies of the hands and feet and postaxial polydactyly of the hands. Both males also had glandular hypospadias. Certain of these findings resemble those found in the hand-foot-genital syndrome; however, we conclude that this family has a hitherto unreported autosomal dominant condition. Production by a single gene defect of preaxial deficiencies and postaxial polydactyly in the same individual is of note.

Abnormalities, Multiple↗
PubMed1981

Aspirin-induced teratogenesis: a unique pattern of cell death and subsequent polydactyly in the rat.

Offspring of pregnant rats treated with a high dose of aspirin on day 11 of gestation frequently had predominantly right-sided polydactyly of the hindlimbs at term. Aspirin-treated embryos removed on day 12 exhibited a unique pattern of preaxial mesodermal cell death in the hindlimb buds. In addition, these embryos had a delay of the normal episode of cells death in the preaxial apical ectodermal ridge and an absence of cell death in a zone of physiological necrosis in the preaxial mesoderm thought to be instrumental in controlling preaxial digit formation. The role of cell death in the pathogenesis of polydactyly is discussed.

Abnormalities, Drug-Induced↗
PubMed1981

Pathogenesis of bromodeoxyuridine-induced polydactyly.

Intraperitoneal injection of BUdR on day 11 or 12 of rat gestation produced preaxial polydactyly of the hindlimb. The pathogenesis of this deformity differed from that of other polydactyly regimes in that drug-induced mesenchymal necrosis was not an essential feature. Likewise an altered pattern of physiological necrosis was not an essential feature. Likewise an altered pattern of physiological necrosis in the apical ectodermal ridge (AER) was not evident in hindlimbs of BUdR-treated embryos. In keeping with earlier studies, a zone of physiological necrosis within the preaxial mesoderm thought to be instrumental in controlling preaxial digitation was abolished. Speculation has focused on the incorporation of BUdR into these prospectively necrotic cells as the means by which they survive. Support for this idea is gained from the protective effect of concomitant thymidine administration, which presumably prevents BUdR incorporation.

Abnormalities, Drug-Induced↗
PubMed1980

Hydrometrocolpos and polydactyly.

Two cases of hydrometrocolpos and polydactyly in female infants with persistent urogenital sinus are reported. The importance of considering hydrometrocolpos as the cause of an abdominal mass in female infants with polydactyly is stressed. Cytologic examination of the vaginal fluid may help in early diagnosis.

Abnormalities, Multiple↗
PubMed1990

Developmental brain abnormalities accompanied with the retarded production of S-100 beta protein in genetic polydactyly mice.

The homozygotes of a mouse strain with genetic polydactyly (Polydactyly Nagoya, Pdn) exhibit various brain malformations including exencephaly in about 20%. In the present report, the brains of homozygotes (Pdn/Pdn) which were not exencephalic were examined morphologically and biochemically. Homozygous newborn brains showed hydrocephaly, some gyri on the cerebral hemisphere, absence of the corpus callosum, absence of the commissura anterior, absence of the fornix and commissura fornicis, protuberance of the cortical tissue from the brain surface, and abnormal architecture of the hippocampus. An irregular mass of olfactory nerve was observed on the cribriform plate, and the olfactory bulb was deficient. From these findings, we considered Pdn/Pdn as a kind of arhinencephalic mouse. Nervous tissue-related proteins, S-100 alpha, S-100 beta, creatine kinase B (CK-B), neuron-specific gamma-enolase, guanosine triphosphate binding proteins (Go alpha, Gi2 alpha and G beta) were immunoassayed in the cerebrum of Pdn/Pdn embryos and newborns. Among the protein analysed, only S-100 beta of Pdn/Pdn showed a significantly lower level than that of +/+ cerebrum during the observation period. The newborn brains were examined immunohistochemically using S-100 alpha, S-100 beta, CK-B, Go alpha and NSE antibodies. We could find no differences in the staining patterns among the Pdn/Pdn, Pdn/+ and +/+ brains.

Animals↗
PubMed1990

Teratogenic relationship between polydactyly, syndactyly and cleft hand.

Several investigators have suggested that polydactyly, syndactyly and cleft hand might have arisen from a common teratogenic mechanism. To confirm this hypothesis, 75 hands with these anomalies were analysed. Advanced cases with central polydactyly or osseous syndactyly in which the fusion area extends as far as the proximal phalanx and metacarpus are identical to typical cleft hand. The author has induced the same deformities using myleran in rat foetuses. The clinical features of these anomalies in rats were the same as those in clinical cases and the critical periods of these anomalies were also the same. The findings suggest that these hand anomalies may appear in human beings when the same teratogenic factor acts on the embryo at the same developmental period and that they should belong to the same teratogenic entity.

Animals↗