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At least 253 records · Page 14Linked to original sources
PubMed1995

Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.

We report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma-Naumoff, Beemer, and Jeune. It seems possible that the different types of SR(P) syndromes, rather than being distinct conditions, are part of a large disease spectrum. The frequent overlap between orofaciodigital syndromes and SR(P) syndromes may be interpreted as the outcome of deletions of different size within the same chromosome region.

Abnormalities, Multiple↗
PubMed2003

Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?

We report a male patient with increased birth weight and growth, cutis marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia. Although the findings resemble the recently defined macrocephaly cutis marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature.

Abnormalities, Multiple↗
PubMed2003

Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring.

Postaxial polydactyly (PAP) is characterized by the presence of one or more extra ulnar or fibular digits or parts of it. PAP type B presents frequently as a skin tag on the hand(s). It is usually an isolated malformation, but in 6.6% it is associated with other congenital abnormalities, mostly well recognizable syndromes. We present a male with PAP-B only and his daughter with an extended phenotype including mental retardation and minor dysmorphisms. Both share a cytogenetically balanced t(4;7)(p15.2;q35), present in mosaicism in the father. We found microdeletions associated with the breakpoints. The chromosomal regions described here have not been previously associated with the PAP-B phenotype. We present the first case of an individual with isolated PAP-B and a submicroscopic chromosome abnormality.

Abnormalities, Multiple↗
PubMed2004

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?

We report a 19-year-old, non-Amish Caucasian female patient with primary amenorrhea caused by complete lack of Müllerian fusion with vaginal agenesis or Müllerian aplasia (MA), postaxial polydactyly (PAP), and tetralogy of Fallot. The genital tract anomaly of MA with and without renal or skeletal anomalies comprises Mayer-Rokitansky-Kuster-Hauser syndrome, which has not been reported with tetralogy of Fallot. The phenotypic triad of anomalies most closely resembled McKusick-Kaufman syndrome (MKS; OMIM 236700), a rare multiple congenital anomaly syndrome comprised of hydrometrocolpos (HMC), PAP, and congenital heart malformation that is inherited in an autosomal recessive pattern. While upper reproductive tract anomalies have not been reported with MKS, they have been reported with Bardet-Biedl syndrome (BBS), a syndrome that significantly overlaps with MKS. Both MKS and BBS can be caused by mutations in the MKKS or BBS6 gene on chromosome 20p12 and BBS is also associated with mutations in other genes (BBS1, BBS2, BBS4, and BBS7). To address this heterogenity, we sequenced the causative genes in MKS and BBS but no mutations in these five genes were identified. Fluorescence in situ hybridization (FISH) excluded large deletions of chromosome 20p12 and microsatellite marker studies confirmed biparental inheritance for all of the known BBS loci. The dual midline fusion defects of tetralogy of Fallot and MA suggests that either this patient has a unique syndrome with a distinct genetic etiology or that she has a genetically heterogeneous or variant form of MKS.

Abnormalities, Multiple↗
PubMed2005

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.

The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mental retardation which is invariably associated with an 11p13 deletion. We report two monozygotic twins and a third, unrelated patient with WAGR syndrome and additional clinical features not usually associated with WAGR. Both twins had developmental delay, growth deficiency, severe ocular involvement (nystagmus, aniridia, cataracts), atrial septal defect and two uncommon findings: agenesis of the corpus callosum and duplication of the halluces. One twin developed Wilms tumors aged 19 months while her sister remained tumor free by the age of 6.5 years. The singleton patient showed typical WAGR syndrome and preaxial hallucal polydactyly. Molecular cytogenetic studies refined the identification of the extent of the deleted segments, which were not identical in the two families. The two deletions included the PAX6 and WT1 genes as previously reported in typical WAGR patients. The unusual anomalies described in this report, may represent the expression of low penetrant traits associated with haploinsufficency of one or more of the genes present in the deletion (PAX6 is expressed in CNS) or may indicate epistatic influences of modifier genes on the expression of gene(s) present in the WAGR region.

Abnormalities, Multiple↗
PubMed2005

Clefting, amniotic bands, and polydactyly: a distinct phenotype that supports an intrinsic mechanism for amniotic band sequence.

Amniotic band sequence (ABS) is a well-described condition involving a variety of congenital anomalies in association with fibrous bands. However, many cases are associated with birth defects that are not readily explained by the mechanism of fibrous strings entangling body parts and causing disruption of the fetal structures. The most common of these is typical cleft lip and palate (CLP). Here we describe such a case, with typical ABS limb defects and constriction bands, along with CLP, supernumerary left nipple, polydactyly, and a skin papilla. This case is nearly identical to a child previously described by Guion-Almieda and Richieri-Costa [2000] and may, therefore, represent a previously unrecognized syndrome that overlaps with ABS. Furthermore it may be that cases with ABS-like anomalies associated with CLP represent a different condition, possibly caused by mutations in the genes Disorganization, p63, or IRF6.

Abnormalities, Multiple↗
PubMed2005

Single base pair change in the long-range Sonic hedgehog limb-specific enhancer is a genetic basis for preaxial polydactyly.

In most instances of preaxial polydactyly (PPD), Sonic Hedgehog (Shh), an essential limb patterning signal, is ectopically expressed in an anterior region of the developing limb in addition to the normal posterior domain. It is thought that this anterior Shh expression leads directly to the development of the extra digits. Recent reports have identified a conserved limb-specific Shh enhancer approximately 1 megabase upstream of the Shh transcription initiation site, and individual base pair changes within this region are associated with PPD. We report here that a single base pair change within this enhancer is sufficient to drive beta-galactosidase expression in both anterior and posterior limb domains, similar to Shh expression in animal PPD models, whereas a wild-type construct is expressed only in the posterior limb, similar to Shh expression in normal embryos. These findings provide the first direct evidence that a single base pair change within the limb-specific Shh enhancer acts as a genetic basis for PPD.

Animals↗
PubMed2001

Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings.

The present report describes two fetuses, one female and one male, with thus far undescribed skeletal malformations. The mother was a gravida 2, para 0. Both pregnancies were terminated in the second trimester because of multiple congenital anomalies diagnosed ultrasonographically resembling a short rib-polydactyly syndrome. Both fetuses were found to have postaxial hexadactyly of the hands and feet, marked bilateral campomelia of the forearm and shank bones, and a Dandy-Walker cyst. In addition, the fourth ventricle was dilated in the first sibling and the second sibling had an inverse intestinal malrotation. A literature search failed to reveal similar observations.

Abnormalities, Multiple↗
PubMed2002

The Fused toes (Ft) mouse mutation causes anteroposterior and dorsoventral polydactyly.

Mouse mutants have been proven to be a valuable system to analyze the molecular network governing vertebrate limb development. In the present study, we report on the molecular and morphological consequences of the Fused toes (Ft) mutation on limb morphogenesis in homozygous embryos. We show that Ft affects all three axes as the mutant limbs display severe distal truncations of skeletal elements as well as an anteroposterior and an unusual form of dorsoventral polydactyly. Ectopic activation of the Shh signalling cascade in the distal-most mesoderm together with malformations of the AER likely account for these alterations. Moreover, we provide evidence that a deregulated control of programmed cell death triggered by Bmp-4 and Dkk-1 significantly contributes to the complex limb phenotype. In addition, our analysis reveals a specific requirement of the genes deleted by the Ft mutation in hindlimb morphogenesis.

Animals↗
PubMed2001

DACH: genomic characterization, evaluation as a candidate for postaxial polydactyly type A2, and developmental expression pattern of the mouse homologue.

The gene DACH is a human homologue of Drosophila melanogaster dachshund (dac), which encodes a nuclear factor essential for determining cell fates in the eye, leg, and nervous system of the fly. To investigate possible connections between DACH and inherited developmental disorders, we have characterized the human DACH genomic structure and investigated the tissue and cellular distribution of the mouse DACH1 protein during development. DACH spans 400 kb and is encoded by 12 exons. The predominant DACH transcript is 5.2 kb and encodes a 706-amino-acid protein with an observed molecular weight of 97 kDa.DACH mRNA was detected in multiple adult human tissues including kidney and heart. The mouse DACH1 protein was immunolocalized to specific cell types within the developing kidneys, eyes, cochleae, and limb buds. Data suggest genetic linkage of the limb bud patterning defect postaxial polydactyly type A (designated PAP-A2, MIM 602085) to a 28-cM interval on chromosome 13 that includes DACH. However, mutation analysis of DACH in this PAP-A2 pedigree revealed no sequence differences in the coding region, splice sites, or proximal promoter region. The data presented will allow for the analysis of DACH as a candidate for other developmental disorders affecting the limbs, kidneys, eyes, ears, and other sites of DACH expression.

Alternative Splicing↗
PubMed1995

Prenatal diagnosis of glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type.

An 18-year-old gravida 1 para 0 female was presented at 35 weeks' gestation with severe oligohydramnios. Sonography revealed a fetus with hydrops, bilaterally enlarged echogenic kidneys, and short extremities. The infant died at birth and autopsy was compatible with short-rib polydactyly syndrome type II, Majewski type. Renal histology was consistent with glomerulocystic disease.

Adult↗
PubMed1996

Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: a defect expression of a developmental control gene?

We describe two unrelated patients with a complex malformation pattern that may be a candidate for a developmental gene disorder. These two patients had severe, symmetrical upper and lower limb deficiencies, vertebral hypersegmentation, and duodenal atresia. Patient 1 also had mirror-image polydactyly of his feet; patient 2 was athymic. The concurrence in two unrelated patients of additional vertebrae with severe anomalies in limb development, including a symmetrical deficiency of the four limbs and either mirror-image duplication of some toes (only in patient 1) or absence of the thymus (only in patient 2), represents an early alteration in body-plan organization. Since limb development, thymus development and segmentation are possibly under the control of homeobox genes in the human embryo, it seems reasonable that the malformations observed in these two patients resulted from a defect of a gene controlling developmental pattern formation, possibly a homeobox gene or a paired-box gene. Severe limb deficiencies have been reported in other well-known genetic entities, such as Roberts syndrome, Baller-Gerold syndrome, X-linked amelia, and DK-phocomelia syndrome. However, since the specific pattern of anomalies observed in these patients makes the diagnosis of some of the abovementioned disorders unlikely, we conclude that our patients have a previously undescribed disorder.

Abnormalities, Multiple↗
PubMed1999

[Polydactyly of the foot].

Polydactyly may be preaxial or tibial (hallux-side), postaxial or ulnar (side of the little toe) and central (middle toes). The duplication may appear at the distal and medial phalanges or at the whole digit. The metatarsal bone may be part wise or completely duplicated, the accessory toes may share only one metatarsal. Surgical intervention may be indicated in shoe problems, for esthetic reasons or, especially in duplication of the metatarsales, because of secondary deviation of the toes and therefore shoe problems or plantar callosities. Preoperative analysis including x-ray is of great importance to achieve good functional and cosmetic results.

Adolescent↗
PubMed1998

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.

The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories. OFF

Abnormalities, Multiple↗
PubMedDate not supplied

Short rib polydactyly syndrome type III: histopathogenesis of the skeletal phenotype.

A morphological study of the skeletal system in a case of short rib polydactyly syndrome type III (SRPS-III) documented a "bajonet" deformity of the ribs for misalignment and overlap of cartilaginous and bony ends. This deformity resulted from a 'tandem' change in endochondral bone formation that is, arrested orthotopic cartilage maturation and etherotopic perichondral cartilage differentiation and ossification. At the cartilaginous end, cartilage maturation and vascular invasion were absent. At the bony end, longitudinal bone growth occurred by a perichondral ectopic growth plate. 'Miniature' versions of this 'tandem' change were also demonstrated in the long bones of the limbs and included focally arrested orthotopic cartilage maturation at the growth plates, perichondral cartilage differentiation, and ossification within cartilage canals. Our morphological study indicates that a generalized loss of syncrony in cartilage removal and osteogenic differentiation occurs in all growth plates, albeit with varied expressivity, and represents, at tissue level, the mechanism by which the SRPS-III skeletal phenotype develops.

Adult↗
PubMed1995

Short rib polydactyly syndrome--a rare skeletal dysplasia.

We present a case of prenatal ultrasonographic diagnosis of short rib polydactyly syndrome (SRPS). The fetus had severe oligohydramnios due to bilateral renal agenesis. Amnioinfusion with normal saline improved ultrasound visualization and helped in confirming the diagnosis. Subtypes and differential diagnosis of SRPS are discussed.

Female↗
PubMed2006

A new surgical method for treating lateral ray polydactyly with brachydactyly of the foot: lengthening the reconstructed fifth toe.

Lateral ray polydactyly is the most common anomaly of the foot. However, when both the fifth and sixth toes are markedly shorter than a normal toe, reconstruction of a normal-length fifth toe has not been performed, because the toe rarely serves a functional purpose. The authors devised a new method whereby the fifth toe could be lengthened using the excess toe as a composite flap. Fifteen patients (15 toes) underwent our procedures and were evaluated in this study. The stepladder island flap is used. The decision as to which toe to use as the flap was made preoperatively based on nail size, and its morphologic and radiographic conditions. Stepladder incision lines were designed on the dorsal and plantar sides of the duplication. Care was taken to preserve the neurovascular bundle with the subcutaneous pedicle and osteotomies were made at the middle phalanx of the flap and the distal or middle phalanx of the recipient in almost all cases. The elevated composite toe flap was advanced and the bone was fixed rigidly for 1-2 months after the operation. During our follow-up periods, the reconstructed toes grew normally, and good aesthetic results had been achieved apart from the bulkiness of the reconstructed toes. There was no deficiency in circulation or function for walking, running, or shoe-fitting in this series.

Child↗
PubMed2005

Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalities.

Point mutations in the long-range, limb-specific regulatory element of the SHH gene are responsible for the human limb abnormality called preaxial polydactyly (PPD). Disruptions of regulatory elements in developmental genes are a small but increasingly significant class of mutations responsible for congenital defects. Identifying regulatory elements that might reside hundreds of kilobases from their relevant genes is difficult but rendered possible by the emerging field of comparative genomics. Genetic analysis of PPD highlights the notion that regulatory mutations might generate phenotypes distinct from any of those identified for coding region mutations.

Animals↗