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PubMed2002

An early tetrapod from 'Romer's Gap'.

The fossil record of early tetrapods has been increased recently by new finds from the Devonian period and mid-late Early Carboniferous period. Despite this, understanding of tetrapod evolution has been hampered by a 20-million-year gap ('Romer's Gap') that covers the crucial, early period when many key features of terrestrial tetrapods were acquired. Here I describe the only articulated skeleton of a tetrapod, Pederpes, yet found from the Tournaisian epoch (354-344 million years ago (Myr)). The new taxon includes a pes with five robust digits, but a very small, possibly supernumerary digit preserved on the manus suggests the presence of polydactyly. Polydactylous early tetrapods may have survived beyond the end of the Devonian and pentadactyly cannot be assumed for the pes. However, the pes has characteristics that distinguish it from the paddle-like feet of the Devonian forms and resembles the feet of later, more terrestrially adapted Carboniferous forms. Pederpes is the earliest-known tetrapod to show the beginnings of terrestrial locomotion and was at least functionally pentadactyl. With its later American sister-genus, Whatcheeria, it represents the next most primitive tetrapod clade after those of the Late Devonian, bridging the temporal, morphological and phylogenetic gaps that have hitherto separated Late Devonian and mid-Carboniferous tetrapod faunas.

Amphibians↗
PubMed1993

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.

Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. Other findings include hypertension, diabetes mellitus and renal and cardiovascular anomalies. We have performed a genome-wide search for linkage in a large inbred Bedouin family. Pairwise analysis established linkage with the locus D16S408 with no recombination and a lod score of 4.2. A multilocus lod score of 5.3 was observed. By demonstrating homozygosity, in all affected individuals, for the same allele of marker D16S408, further support for linkage is found, and the utility of homozygosity mapping using inbred families is demonstrated. In a second family, linkage was excluded at this locus, suggesting non-allelic genetic heterogeneity in this disorder.

Chromosome Mapping↗
PubMed1997

Sonographic measurement of the fetal rib cage perimeter to thoracic circumference ratio: application to prenatal diagnosis of skeletal dysplasias.

The object of this study was to establish new normative data for the fetal rib cage perimeter to thoracic circumference ratio, and to evaluate the potential application of this measurement in the diagnosis of short rib and other skeletal dysplasias. Rib cage perimeter (RCP) and thoracic circumference (TC) were measured in a prospective, cross-sectional sample of 88 patients with normal pregnancies between 14 and 39 weeks of gestation. The RCP and TC were both measured in cross-section, at a level of the four-chamber view of the fetal heart. RCP and TC measurements were also obtained from eight cases known to have skeletal dysplasias. The mean (+/- SE) RCP:TC ratio in normal pregnancies, regardless of gestational age, was 0.670 +/- 0.004. In five of eight cases with skeletal dysplasias the RCP:TC ratio was significantly decreased, and in one case it was increased. The RCP:TC ratio in normal fetuses is independent of gestational age. In this small series the ratio was abnormal in fetuses with certain skeletal dysplasias, and particularly decreased in the fetus with a short rib-polydactyly syndrome. After further evaluation, this technique may prove to be of clinical significance in helping to diagnose skeletal dysplasias, particularly in cases where the gestational age is uncertain.

Bone Diseases, Developmental↗
PubMedDate not supplied

Nevus comedonicus syndrome: a new pediatric case.

Nevus comedonicus (NC) is an uncommon developmental defect of the pilosebaceous apparatus. The individual lesions are large comedones often arranged in groups or in a linear pattern. Nevus comedonicus syndrome (NCS) is a well-defined disorder within the large group of epidermal nevus syndromes. In patients suffering from NCS, the nevus is associated with noncutaneous abnormalities including skeletal defects, cerebral anomalies, and cataracts. We report a 9-year-old boy with open comedones in a linear pattern localized to the right cheek, clinodactyly and polydactyly of the first right finger, bilateral syndactyly of the second and third toes, and some depigmented hairs since birth.

Biopsy↗
PubMed2000

Visual loss as the presenting sign of Jeune syndrome.

We describe a 5-year-old girl with Jeune syndrome. The presenting symptoms included visual loss and night blindness only. In the neonatal period she had surgery on both hands for bilateral polydactyly. Following clinical and radiological examination a diagnosis of Jeune syndrome was proposed. Although Jeune syndrome is often characterized by multiple organ abnormalities, our patient presented with ocular symptoms at the age of 5 years.

Abnormalities, Multiple↗
PubMed1999

Unusual complication of ligation of rudimentary ulnar digit.

We report a case of rudimentary ulnar polydactyly of the hand of a 7-year-old female child. Histological examination revealed a central traumatic neuroma which branched into five digit-like projections covered with hyperkeratotic epidermis. We think this was a result of suture ligation during the postnatal period.

Child↗
PubMed2002

Duplicated longitudinal bracketed epiphysis 'kissing delta phalanx' in the hand.

The duplicated longitudinal bracketed epiphysis ("kissing delta") phalanx has been described rarely. These delta bones have a bizarre appearance and are often associated with other developmental abnormalities such as central polydactyly. We have seen a total of 13 kissing delta phalanges in the hands. We discuss their natural history, look at the associated anomalies and consider the treatment options for this very rare congenital anomaly.

Abnormalities, Multiple↗
PubMedDate not supplied

The treatment of crossbones of the hand.

Over a thirty-year period at Loma Linda University, we have seen eight patients with nine crossbones of the hand. These patients fall into the group of central deficiency with a cleft hand and central polydactyly. As will be noted in the paper, these two conditions may have a similar developmental relationship. Although the literature in the past specifies mainly one option - to remove the crossbone - we consider several different options that one should think about before removal of the crossbones.

Child↗
PubMedDate not supplied

Congenital duplication of the thumb.

Duplication or polydactyly of the thumb is among the most common congenital deformities that involve the hand. The purpose of this presentation is to review the Mayo Clinic experience with thumb duplication and to present preferred operative procedures to achieve the best clinical outcome and esthetic appearance for the hand. We propose that a combination or "best of parts", utilizing the components of both duplicates with retention of the ulnar duplicate as the base for reconstruction will provide the most functional clinical result. A clinical grading system and analysis of results from our personal experience during two different time frames provides the scientific support for our conclusions that combination procedures are preferred to simple excisions or to central joining of parts as in the Bilhaut-Cloquet procedure.

Child↗
PubMed2005

Unusual presentation of McKusick-Kaufman syndrome in a female Bedouin Arab baby.

McKusick-Kaufman syndrome is a rare, autosomal, recessive disorder characterized by hydrometrocolpos, post-axial polydactyly, and congenital heart disease. Less than one hundred cases have been reported in the English literature to date, mainly in the Amish population; sporadic cases have also been described. We present a case of an Arab Bedouin girl who presented with features resembling this syndrome.

Arabs↗
PubMed1999

GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization.

Truncation mutations of the GLI3 zinc finger transcription factor can cause Greig cephalopolysyndactyly syndrome (GCPS), Pallister-Hall syndrome (PHS), and postaxial polydactyly type A (PAP-A). GLI3 is homologous to Drosophila Cubitus interruptus (Ci), which regulates the patched (ptc), gooseberry (gsb), and decapentaplegic (dpp) genes. Ci is sequestered in the cytoplasm and is subject to posttranslational processing whereby the full-length transcriptional activator form (Ci155) can be cleaved to a repressor form (Ci75). Under hedgehog signaling, the Ci155 form translocates to the nucleus whereas in the absence of hedgehog, the Ci75 form translocates to the nucleus. Based on the correlation of GLI3 truncation mutations and the human phenotypes, we hypothesized that GLI3 shows transcriptional activation or repression activity and subcellular localization similar to Ci. Here we show that full-length GLI3 localizes to the cytoplasm and activates PTCH1 expression, which is similar to full-length Ci155. PHS mutant protein (GLI3-PHS) localizes to the nucleus and represses GLI3-activated PTCH1 expression, which is similar to Ci75. The GCPS mutant protein has no effect on GLI3-activated PTCH1 transcription, consistent with the role of haploinsufficiency in this disorder. The PAP-A mutant protein (GLI3-PAP-A) showed less specific subcellular localization but still inhibited GLI3-activated PTCH1 transcription, suggesting it may be a weaker allele than the GLI3-PHS mutation. These data show that GLI3 mutations in humans mimic functional effects of the Drosophila ci gene and correlate with the distinct effects of these mutations on human development.

Animals↗
PubMed1996

Further analysis of developmental potentialities expressed by the footplate of 11-day mouse embryo hindlimb buds explanted in organ culture.

The developmental potentialities expressed in vitro by hindlimb buds or excised footplates of 11-day mouse embryos have been analyzed using different kinds of organ culture procedures. As compared with unsatisfactory results obtained with explants transferred in submerged culture, others cultured on Nuclepore membranes following the Trowell technique exhibited growth and pattern formation performances which could be correlated with the CR length of their donor embryos. According to the case, their distal segment appeared hypotrophic and strongly necrotic, triangular shaped with 2 or 3 converging digital rays, four toed shaped with 3 or 4 digital rays, and pentadactylous. Insufficient distal morphogenesis observed in younger limb buds could be related to selective cell death in the A.E.R. and subridge mesoderm, as well as to early dilation of the marginal vein. Prospective area of digit 1 proved to be particularly sensitive to culture conditions. However, observations made in explants excised from potentially polydactylous embryos showed that the X-linked polydactyly (Xpl) phenotype can be expressed in vitro. Three technical variants contributed to improve the quality of pattern formation in the distal segment: the use of collagen-coated nuclepore membranes and the addition of bFGF or TGF-beta in the culture medium. The presence of bFGF seems to provide a protection against mesodermal cell death; that of TGF-beta appeared to promote digital outgrowth. The preskeletal pattern achieved in cultured footplates was in good agreement with maps of prospective areas previously established for the mouse hindlimb bud.

Animals↗
PubMed1999

A case of mirror hand deformity with a 17-year postoperative follow up. Case report.

We present a case of a boy with a congenital upper-extremity malformation, including aplasia of the radius, double ulna, aplasia of the thumb, and polydactyly with a 17-year postoperative follow-up. The whole extremity, particularly the upper arm and shoulder girdle were hypoplastic. There was restriction of movement of the elbow and a flexion contracture of the wrist. At an age of 2 years he had three hypoplastic fingers resected and pollicisation of the third accessory finger. The thenar was reconstructed by interosseous muscle transfers and the flexion contracture corrected by a flexor tendon transfer. Preoperative electromyographic studies showed that he had two ulnar nerves with cross-innervation of the median nerve. Further improvements (including tendon transfer of the flexor carpi radialis) were made 16 years after the primary operation. At the age of 18 years the patient has satisfactory function of his left hand.

Abnormalities, Multiple↗
PubMed2001

Unusual leg malformations in screech owls from a South Carolina Superfund site.

In 1995, the discovery of leg malformations in several screech owl (Otis asio) nestlings and in their female parent at a Department of Energy (DOE) Superfund site in South Carolina prompted an investigation into the nature of the observed abnormalities. Surviving nestlings and the female parent were transferred to a captive screech owl breeding colony at the USGS Patuxent Wildlife Research Center, Laurel, MD. The malformed female parent and her offspring were each mated with normal owls from the colony for 3 yr. Matings of the malfored female produced five malformed and six normal owls; all owls produced by matings of normal offspring were normal. Malformed offspring were euthanized when it became apparent that their physical distress precluded survival under normal conditions of colony care. Euthanized owls were necropsied and examined for skeletal development. Detailed descriptions of eight malformed owls are presented. Results of the matings indicated that the leg mafformations were caused by a genetic trait in the female parent that was heterozygous dominant. The characteristic was lethal except in occasional mild manifestations and resembled an extreme form of a dominant abnormality previously described for domestic fowl called duplicate polydactyly. Other reports of skeletal abnormalities in wild birds and potential environmental causes of genetic mutations at the DOE Superfund site are presented. Other studies performed at the DOE Superfund site do not implicate elevated (above background) ionizing radiation from 137Cs, the dominant radionuclide where the owls were captured, as the cause of the mutation. The cause of this genetic abnormality remains unknown.

Animals↗
PubMed1998

A gene for Meckel syndrome maps to chromosome 11q13.

Meckel syndrome (MKS) is a rare autosomal recessive lethal condition of unknown origin, characterized by (i) an occipital meningo-encephalocele with (ii) enlarged kidneys, with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and (iii) postaxial polydactyly. A gene responsible for MKS in Finland has been mapped to chromosome 17q21-q24. Studying a subset of Middle Eastern and northern African MKS families, we have recently excluded the chromosome 17 region and have suggested a genetic heterogeneity. In the present study, we report on the mapping of a second MKS locus (MKS2) to chromosome 11q13, by homozygosity mapping in seven families that do not show linkage to chromosome 17q21-q24 (maximum LOD score 4.41 at recombination fraction .01). Most interestingly, the affected fetuses of southern Tunisian ancestry shared a particular haplotype at loci D11S911 and D11S906, suggesting that a founder effect is involved. Our observation gives support to the clinical and genetic heterogeneity of MKS.

Abnormalities, Multiple↗
PubMed1995

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.

Bardet-Biedl syndrome is a heterogeneous autosomal recessive disorder characterized by obesity, mental retardation, polydactyly, retinitis pigmentosa and hypogonadism. Patients with this disorder also have a high incidence of hypertension, diabetes mellitus, and renal and cardiovascular anomalies. Three independent loci causing Bardet-Biedl syndrome have previously been reported. In this study, we we utilized a DNA pooling approach using DNA samples from a highly inbred Bedouin kindred to identify a new Bardet-Biedl syndrome locus on chromosome 15. The results further demonstrate the genetic heterogeneity of this disorder. In addition, the results demonstrate the efficiency of the DNA pooling approach for identifying recessive disease loci in highly inbred human populations.

Chromosomes, Human, Pair 15↗
PubMed1997

Point mutations in human GLI3 cause Greig syndrome.

Greig cephalopolysyndactyly syndrome (GCPS, MIM 175700) is a rare autosomal dominant developmental disorder characterized by craniofacial abnormalities and post-axial and pre-axial polydactyly as well as syndactyly of hands and feet. Human GLI3, located on chromosome 7p13, is a candidate gene for the syndrome because it is interrupted by translocation breakpoints associated with GCPS. Since hemizygosity of 7p13 resulting in complete loss of one copy of GLI3 causes GCPS as well, haploinsufficiency of this gene was implicated as a mechanism to cause this developmental malformation. To determine if point mutations within GLI3 could be responsible for GCPS we describe the genomic sequences at the boundaries of the 15 exons and primer pair sequences for mutation analysis with polymerase chain reaction-based assays of the entire GLI3 coding sequences. In two GCPS cases, both of which did not exhibit obvious cytogenetic rearrangements, point mutations were identified in different domains of the protein, showing for the first time that Greig syndrome can be caused by GLI3 point mutations. In one case a nonsense mutation in exon X generates a stop codon truncating the protein in the C-H link of the first zinc finger. In the second case a missense mutation in exon XIV causes a Pro-->Ser replacement at a position that is conserved among GLI genes from several species altering a potential phosphorylation site.

Abnormalities, Multiple↗
PubMed1998

Genetic and physical mapping of the McKusick-Kaufman syndrome.

McKusick-Kaufman syndrome is a human developmental anomaly syndrome comprising mesoaxial or postaxial polydactyly, congenital heart disease and hydrometrocolpos. This syndrome is diagnosed most frequently in the Old Order Amish population and is inherited in an autosomal recessive pattern with reduced penetrance and variable expressivity. Homozygosity mapping and linkage analyses were conducted using two pedigrees derived from a larger pedigree published in 1978. The PedHunter software query system was used on the Amish Genealogy Database to correct the previous pedigree, derive a minimal pedigree connecting those affected sibships that are in the database and determine the most recent common ancestors of the affected persons. Whole genome short tandem repeat polymorphism (STRP) screening showed homozygosity in 20p12, between D20S162 and D20S894 , an area that includes the Alagille syndrome critical region. The peak two-point LOD score was 3.33, and the peak three-point LOD score was 5.21. The physical map of this region has been defined, and additional polymorphic markers have been isolated. The region includes several genes and expressed sequence tags (ESTs), including the jagged1 gene that recently has been shown to be haploinsufficient in the Alagille syndrome. Sequencing of jagged1 in two unrelated individuals affected with McKusick-Kaufman syndrome has not revealed any disease-causing mutations.

Abnormalities, Multiple↗