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PubMed1988

The carpal bones in congenital hand anomalies: a radiographic study in patients older than ten years.

Abnormalities of the carpal bones in 192 anomalous hands of 154 patients older than 10 years were examined. Judging from the time of appearance of the pisiform, there was no delay of carpal bone maturation in these anomalies. There were differences between the carpal bones of three distinct groups: which included central polydactyly, syndactyly, and typical cleft hand; the group which included radial and ulnar deficiency, and the group which included symbrachydactyly and transverse defect. This suggests that there were differences between these groups in the timing and degree of injury to the limb bud or the hand plate in the course of development. It is thought that the first group originates from maldistribution of mesenchymal tissue of the limb bud (or of the apical ectodermal ridge), the second group from defects of that tissue, and the last group from defects of the mesenchymal tissue of the hand plate.

Adolescent↗

PubMed1999

Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1).

Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, obesity, retinitis pigmentosa, polydactyly, short stature, and hypogenitalism. To date, five BBS loci have been identified. BBS1, located on 11q13, is reported to be the most prevalent form of BBS in the Caucasian population. A positional cloning approach is being used to identify the gene responsible for BBS1. EHD1, a new member of the EH-domain containing proteins, was identified in this study as lying within the BBS1 disease interval. RNA analysis of many tissues revealed that expression of EHD1 is ubiquitous, with elevated levels in the testis. The genomic structure of EHD1 was elucidated by direct BAC sequencing. Following identification of the intron/exon boundaries, mutational analysis was performed by single strand conformation polymorphism and direct sequencing of affected individuals from several large kindreds linked to the BBS1 locus, as well as a cohort of unrelated probands. No disease-causing mutations were identified in this analysis, but several polymorphisms were found.

Amino Acid Sequence↗

PubMed2003

Schinzel-Giedion syndrome: a further cause of West syndrome.

Schinzel-Giedion syndrome (SGS) is a rare disorder with a likely autosomal recessive pattern of inheritance which is characterized by several facial dysmorphisms, midface hypoplasia, multiple skeletal anomalies including short and sclerotic skull base, short neck, and post-axial polydactyly. Cardiac and urogenital malformations are also present. Thirty-three cases have been described so far. We report on a boy affected by SGS in whom a long-term EEG follow-up showed a progressive deterioration of the background bioelectric activity ending, at the age of 19 months, with a hypsarrhythmic pattern clinically correlated with severe and refractory infantile spasms. EEG deterioration and neuroradiological findings, which showed progressive brain atrophy, confirm the neurodegenerative nature of SGS. We also re-evaluated all the published cases and found that 33% of patients with SGS experienced neonatal seizures and another 25% developed West syndrome in the following months. The seizures appeared extremely refractory to several anticonvulsive treatments. In conclusion, we believe that SGS should be included among the causes of secondary West syndrome.

Abnormalities, Multiple↗

PubMed1997

Telencephalosynapsis (synencephaly) and rhombencephalosynapsis with posterior fossa ventriculocele ('Dandy-Walker cyst'): an unusual aberrant syngenetic complex.

Agenesis of the cerebellar vermis (paleocerebellar agenesis) with fusion of the cerebellar hemispheres (rhombencephalosynapsis) is a rare malformation of the central nervous system (CNS). Its combination with synencephaly (telencephalosynapsis), telencephalic ventricular aplasia, aqueductal atresia and cystic fourth ventricle has not yet been described, as far as we know. Here, we report this combination in a 23-weeks' gestation male fetus who was aborted to a 24-year-old diabetic mother. In this fetus with cerebral and cerebellar hemispheric fusion, vermian agenesis was associated with a Dandy-Walker-like posterior fossa cyst, in spite of the fusion of the hypoplastic cerebellar hemispheres. The CNS malformations were further accompanied by dysmorphic facial stigmata such as unilateral atresia of the external ear, ocular hypertelorism and a broad nasal bridge. Preaxial polydactyly and contractures of the upper limbs were the only associated non-cranial abnormalities. Cytogenetic studies revealed a numerically and structurally normal male (46, XY). The malformation complex described in this fetus of a mother with antedating pregnancy diabetes appears to represent a previously undescribed aberrant syngenetic CNS phenotype, some basic teratogenetic aspects of which will be discussed in this paper.

Adult↗

PubMed1996

[The pisiform bone: sesamoid or carpal bone?].

In man, the pisiform bone occupies an unusual place among the carpal bones. It is situated in an anterior plane to the other bones, sheathed within the tendon of the flexor carpi ulnaris, and ossifying almost four years the last of the carpal bones. Many theories have tried to explain the presence of this "exceptional" bone: the first theory, proposed by Flower and Mivart, suggested the possibility that this bone could be a sesamoid. The second theory supposes a polydactyl hand, assuming that polydactyly preceded pentadactyly; the pisiform would then be a post-minimus vestigial bone according to Bardeleben. Finally, Gegenbauer and Gillies, proposed a primary pentadactyl hand in which the carpus would be composed of three proximal elements, generally two central, and five distal. The pisiform would either be a derivative of the central series, or a distinct element in the carpus. This last theory appears to be the most likely. The primary carpus would therefore have consisted of 12 bones arranged in 3 distinct rows, a proximal row of 3 bones, a central row of 4 bones, and a distal row of 5 bones. According to this theory, the most ulnar of the central would have been displaced to the medial limit of the carpus, to become the pisiform.

Animals↗

PubMed2002

[Piso-triquetral osteoarthritis. Thirteen case reports and review of the literature].

Piso-triquetral osteoarthritis (OA) is an infrequent cause of ulnar wrist compartment pain. Specific clinical manoeuvres may help for diagnosis. If this aetiology is suspected, a 30 degrees oblique wrist X-ray in supination and sometimes a CT scan with transverse cuts should be performed demonstrating a joint narrowing and osteophytes formation. The FCU-pisiform biomechanical unit transfers the wrist flexion forces. A series of 13 cases of piso-triquetral OA is presented in 12 patients (six females and six men) treated between 1990 and 1997. Mean age was 52.7 y. Pain at resisted motion in flexion and ulnar deviation and strength decrease was always present at clinical examination. Subperiosteal pisiform excision has been constantly performed. Continuity of FCU insertions and its distal ligamentous extensions has been preserved. Mean F-up was 18.1 months (3-57). Pain has disappeared in seven cases and significantly decreased in five. NSD was present in one case. Range of motion and strength was normal in all cases. Ulnar nerve paresthesias has always disappeared. The pisiform bone is not a sesamoid: a true joint with the triquetrum exists. From the phylogenetic point of view, three theories have been proposed: (a) in some species, pisiform is fused with adjacent bones or metacarpals; (b) pisiform is a remnant of a polydactyly hand; (c) pisiform is a remnant of the carpal central row.

Biomechanical Phenomena↗

PubMed1998

Human developmental disorders and the Sonic hedgehog pathway.

Sonic hedgehog (Shh) is a morphogen that is crucial for normal development of a variety of organ systems, including the brain and spinal cord, the eye, craniofacial structures, and the limbs. Mutations in the human SHH gene and genes that encode its downstream intracellular signaling pathway cause several clinical disorders. These include holoprosencephaly (HPE, the most common anomaly of the developing forebrain), nevoid basal cell carcinoma syndrome, sporadic tumors, including basal cell carcinomas, and three distinct congenital disorders: Greig syndrome Pallister-Hall syndrome, and isolated postaxial polydactyly. These conditions caused by abnormalities in the SHH pathway demonstrate the crucial role of SHH in complex developmental processes, and molecular analyses of these disorders provide insight into the normal function of the SHH pathway in human development.

Animals↗

PubMed2003

Control of skeletal patterning by ephrinB1-EphB interactions.

We report that targeted inactivation of the Eph receptor ligand ephrinB1 in mouse caused perinatal lethality, edema, defective body wall closure, and skeletal abnormalities. In the thorax, sternocostal connections were arranged asymmetrically and sternebrae were fused, defects that were phenocopied in EphB2/EphB3 receptor mutants. In the wrist, loss of ephrinB1 led to abnormal cartilage segmentation and the formation of additional skeletal elements. We conclude that ephrinB1 and B class Eph receptors provide positional cues required for the normal morphogenesis of skeletal elements. Another malformation, preaxial polydactyly, was exclusively seen in heterozygous females in which expression of the X-linked ephrinB1 gene was mosaic, so that ectopic EphB-ephrinB1 interactions led to restricted cell movements and the bifurcation of digital rays. Our findings suggest that differential cell adhesion and sorting might be relevant for an unusual class of X-linked human genetic disorders, in which heterozygous females show more severe phenotypes than hemizygous males.

Animals↗

PubMed1984

Discordance for skeletal and cardiac defect in monozygotic twins.

A case of monozygotic male twins discordant for skeletal and cardiac defect is reported. One twin had the hemifacial microsomia type of the oculo-auriculo-vertebral dysplasia. The cotwin had no asymmetry of the face and normal ears, but preaxial polydactyly and ventricular and auricular septal defects. The cotwins were concordant for craniostenosis with a ridge metopic suture. Karyotypes were normal.

Diseases in Twins↗

PubMed2004

Joubert syndrome: long-term follow-up.

Twenty-nine patients (16 males, 13 females) with Joubert syndrome were identified from ophthalmology, neurology, and genetic databases covering a 15-year period at Great Ormond Street Hospital, London. Criteria for diagnosis included absent or markedly hypoplastic cerebellar vermis, abnormal eye movements, and developmental delay. Five patients had died. Scans and notes were available for 22 patients, and 18 cases were clinically reviewed. The median age was 10 years 10 months (range 3mo to 19y) and the median follow-up was 8 years 5 months (range 3mo to 19y, with one new patient seen at 3mo of age). Cerebellar vermis hypoplasia/aplasia with 'molar tooth sign' in the axial plane was present in 22 of 22 patients, coloboma in 6 of 22, and polydactyly in 6 of 22. In the 18 clinically reviewed, apnoea occurred in 13 patients. Five had renal problems with cysts and 4 of 5 had abnormal electroretinograms (ERGs). Visual electrophysiology was abnormal in 14 of 18 patients, and in 6 there was evidence of deterioration in the ERG. Blood investigations of organic acids, phytanic acid, very-long-chain fatty acid, and transferrin were normal in 12 patients tested. Developmental assessment showed that 6 of 15 patients aged more than 5 years were at mainstream school, and 12 of 18 had started walking between 22 months and 10 years. Speech difficulties and behavioural problems were prominent.

Achilles Tendon↗

PubMed1975

Congenital malformations, twinning and associated variables in a Brazilian population.

A sample of 6052 newborn children (4968 whites, 1084 Blacks) issued from parents with a generally low socioeconomic level, was studied in relation to congenital anomalies and twinning rates. The observed frequency of major malformations was 1.3% and of minor defects 2.0%. The twinning rate was 1.4%. Race differences were generally nonsignificant in these variables. These results are in agreement with those obtained in some other Brazilian series, but discrepancies were also observed. A total of 13% of the malformations observed proved to be familial, polydactyly being the most common anomaly encountered in this class. The frequency of malformations different from those present in the propositi is higher in their sibships than the general prevalence of defective children found among the sibs of normal babies (13% and 4% respectively). Age, gestation length and exposure of the mothers to noxious agents during pregnancy were not significantly different when the parents of normal and malformed children were compared. On the other hand, as expected, the parents of twins are significantly older than those of single-born, and the gestation length was much reduced in pregnancies resulting in multiple births.

Black People↗

PubMed1999

Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome.

Bardet-Biedl syndrome (BBS) is a hereditary autosomal-recessive disorder, characterized by mental retardation, obesity, pigmentary retinopathy, polydactyly and, only in males, hypogenitalism. Even though genetic studies have revealed five different forms of BBS correlated to distinct loci on different chromosomes, a diagnosis of BBS is still primarily based on clinical data. The present study discusses the evolution of clinical ophthalmological and electrophysiological characteristics of BBS patients in developmental age. The main results obtained on a sample of 13 pediatric patients are the following: * progressive loss of visual acuity arised early in the first decade of life * ophthalmoscopic signs of pigmentary retinopathy were present only in 46% of the children studied * striking anomalies in the electroretinogram were also detected in the cases without pigmentary retinopathy * the electroretinographic results, when detectable, suggested a greater involvement of the photopic system as against the scotopic system.

Bardet-Biedl Syndrome↗

PubMed2003

Split hand foot malformation is associated with a reduced level of Dactylin gene expression.

Split hand foot malformation (SHFM) is a congenital limb malformation presenting with a median cleft of the hand and/or foot, syndactyly and polydactyly. SHFM is genetically heterogeneous with four loci mapped to date. Murine Dactylaplasia (Dac) is phenotypically similar, and it has been mapped to a syntenic region of 10q24, where SHFM3 has been localized. Structural alterations of the gene-encoding dactylin, a constituent of the ubiquitinization pathway, leading to reduced levels of transcript have been identified in Dac. Here, we report a significant decrease of Dactylin transcript in several individuals affected by SHFM. This observation supports a central role for dactylin in the pathogenesis of SHFM.

F-Box Proteins↗

PubMed2000

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder predominantly characterized by obesity, retinal dystrophy, polydactyly, learning difficulties, hypogenitalism and renal malformations, with secondary features that include diabetes mellitus, endocrinological dysfunction and behavioural abnormalities. Despite an initial expectation of genetic homogeneity due to relative clinical uniformity, five BBS loci have been reported, with evidence for additional loci in the human genome; however, no genes for BBS have yet been identified. We performed a genome screen with BBS families from Newfoundland that were excluded from BBS1-5 and identified linkage with D20S189. Fine-mapping reduced the critical interval to 1.9 cM between D20S851 and D20S189, encompassing a chaperonin-like gene. Mutations in this gene were recently reported to be associated with McKusick-Kaufman syndrome (MKKS; ref. 8). Given both the mapping position and clinical similarities of these two syndromes, we screened MKKS and identified mutations in five Newfoundland and two European-American BBS pedigrees. Most are frameshift alleles that are likely to result in a non-functional protein. Our data suggest that a complete loss of function of the MKKS product, and thus an inability to fold a range of target proteins, is responsible for the clinical manifestations of BBS.

Alleles↗

PubMed2000

The mouse fidgetin gene defines a new role for AAA family proteins in mammalian development.

The mouse mutation fidget arose spontaneously in a heterogeneous albino stock. This mutant mouse is characterized by a side-to-side head-shaking and circling behaviour, due to reduced or absent semicircular canals. Fidget mice also have small eyes, associated with cell-cycle delay and insufficient growth of the retinal neural epithelium, and lower penetrance skeletal abnormalities, including pelvic girdle dysgenesis, skull bone fusions and polydactyly. By positional cloning, we found the gene mutated in fidget mice, fidgetin (Fign), which encodes a new member of the 'meiotic' or subfamily-7 (SF7; ref. 7) group of ATPases associated with diverse cellular activities (AAA proteins). We also discovered two closely related mammalian genes. AAA proteins are molecular chaperones that facilitate a variety of functions, including membrane fusion, proteolysis, peroxisome biogenesis, endosome sorting and meiotic spindle formation, but functions for the SF7 AAA proteins are largely unknown. Fidgetin is the first mutant AAA protein found in a mammalian developmental mutant, thus defining a new role for these proteins in embryonic development.

Adenosine Triphosphatases↗

PubMed2003

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning disabilities. Although five BBS genes have been cloned, the molecular basis of this syndrome remains elusive. Here we show that BBS is probably caused by a defect at the basal body of ciliated cells. We have cloned a new BBS gene, BBS8, which encodes a protein with a prokaryotic domain, pilF, involved in pilus formation and twitching mobility. In one family, a homozygous null BBS8 mutation leads to BBS with randomization of left-right body axis symmetry, a known defect of the nodal cilium. We have also found that BBS8 localizes specifically to ciliated structures, such as the connecting cilium of the retina and columnar epithelial cells in the lung. In cells, BBS8 localizes to centrosomes and basal bodies and interacts with PCM1, a protein probably involved in ciliogenesis. Finally, we demonstrate that all available Caenorhabditis elegans BBS homologues are expressed exclusively in ciliated neurons, and contain regulatory elements for RFX, a transcription factor that modulates the expression of genes associated with ciliogenesis and intraflagellar transport.

Alleles↗

PubMed1993

A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene.

Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder affecting limb and craniofacial development. Recently, the human GLI3 gene has been proposed to be a candidate gene for GCPS. Here we describe the molecular characterization of extra-toes (Xt), which is a mouse model of GCPS. The Xt heterozygotes show craniofacial defects and a polydactyly phenotype similar to GCPS. We show that a deficiency of Gli3 expression in the XtJ mutant is due to a deletion within the 3' end of the gene. Furthermore, structures affected in the mouse mutant and human syndrome were found to correlate with expression domains of Gli3 in mouse. These results strongly suggest that the deficiency of GLI3 function leads to GCPS.

Alleles↗

PubMed1995

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

Autosomal recessive Meckel syndrome (OMIM 249000) (MES), first described in 1822 by Johann F. Meckel, is a major monogenic malformation syndrome with a neural tube defect leading to death of the fetus in utero or shortly after birth. The hallmarks of the syndrome are occipital meningoencephalocele, very large kidneys with multicystic dysplasia, cystic and fibrotic changes of the liver and polydactyly (Fig. 1). Other typical malformations for MES are cleft lip and palate, urinary tract anomalies, ambiguous genitals in the males and club feet. Although MES has been reported worldwide, reports on the true birth prevalence of MES in different populations are scarce. In Finland MES is effectively screened and relatively frequent with a birth prevalence of 1:9,000 and a disease gene frequency of 0.01 (ref.4) which is of the same order of magnitude as that of the most common recessive diseases belonging to the 'Finnish disease heritage', that is genetic disorders enriched or only encountered in Finland. However, in MES, comparable or even higher incidences are also reported from other populations. Here, we report the assignment of the MES locus to chromosome 17q21-q24 in the 13 cM region, and exclude some of the potential candidate genes located in this critical chromosomal region.

Abnormalities, Multiple↗