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At least 1,747 records · Page 97Linked to original sources
PubMed1999

The dominant hemimelia mutation uncouples epithelial-mesenchymal interactions and disrupts anterior mesenchyme formation in mouse hindlimbs.

Epithelial-mesenchymal interactions are essential for both limb outgrowth and pattern formation in the limb. Molecules capable of communication between these two tissues are known and include the signaling molecules SHH and FGF4, FGF8 and FGF10. Evidence suggests that the pattern and maintenance of expression of these genes are dependent on a number of factors including regulatory loops between genes expressed in the AER and those in the underlying mesenchyme. We show here that the mouse mutation dominant hemimelia (Dh) alters the pattern of gene expression in the AER such that Fgf4, which is normally expressed in a posterior domain, and Fgf8, which is expressed throughout are expressed in anterior patterns. We show that maintenance of Shh expression in the posterior mesenchyme is not dependent on either expression of Fgf4 or normal levels of Fgf8 in the overlying AER. Conversely, AER expression of Fgf4 is not directly dependent on Shh expression. Also the reciprocal regulatory loop proposed for Fgf8 in the AER and Fgf10 in the underlying mesenchyme is also uncoupled by this mutation. Early during the process of limb initiation, Dh is involved in regulating the width of the limb bud, the mutation resulting in selective loss of anterior mesenchyme. The Dh gene functions in the initial stages of limb development and we suggest that these initial roles are linked to mechanisms that pattern gene expression in the AER.

Animals↗
PubMed2005

Pathomorphology and treatment of congenital anterolateral bowing of the tibia associated with duplication of the hallux.

Congenital unilateral anterolateral tibial bowing in combination with a bifid ipsilateral great toe is a very rare deformity which resembles the anterolateral tibial bowing that occurs in association with congenital pseudarthrosis of the tibia. However, spontaneous resolution of the deformity without operative treatment and with a continuously straight fibula has been described in all previously reported cases. We report three additional cases and discuss the options for treatment. We suggest that this is a specific entity within the field of anterolateral bowing of the tibia and conclude that it has a much better prognosis than congenital pseudarthrosis of the tibia, although conservative treatment alone may not be sufficient.

Abnormalities, Multiple↗
PubMed2004

Pallister-Hall syndrome with hypoparathyroidism.

We report on a 5 2/12 year-old boy who presented with convulsions, precocious puberty due to a 1.9 x 1.9 x 1.6 hypothalamic hamartoma of the tuber cinereum, and some dysmorphic features including polysyndactyly of hands and feet, suggesting the diagnosis of Pallister-Hall syndrome. Hypocalcemia due to hypoparathyroidism was demonstrated, and this combination has not been reported previously. Therefore, we can add hypoparathyroidism as another feature of Pallister-Hall syndrome.

Abnormalities, Multiple↗
PubMed2002

Limb deformities and three-dimensional ultrasound.

AIM: To assess the ability of three-dimensional (3D) ultrasonography for improvement of antenatal detection of limb deformities. METHODS: 347 patients were selected from a routine outpatient clinic or sent for supervision from other units because of suspected anomalies of fetal extremities. 3D ultrasound devices used in the study were Combison 530D and Voluson 530D MT (Kretztechnik, Zipf, Austria) with a 3-5 MHz annular array transducer for three-dimensional volume scanning. RESULTS: In 41 of 347 patients the initial diagnosis was suspected by two-dimensional sonography (gestational age 18-32 weeks). In 28 of 41 suspected cases the diagnosis of abnormalities was determined after examination by 3D sonography: 17/28 clubfoot, 3/28 hand-polydactily, 2/28 upper limb contractures, 1/28 lower limb contractures, 4/28 micromelia within the syndrome of skeletal dysplasia. In 13 of 41 suspected cases, normal anatomy was confirmed using 3D sonography. CONCLUSION: Three-dimensional sonography is the "method of choice" for the detection of an isolated defect of a single limb, developmental or positional deformations and minor defects of hands and feet. Surface-mode reconstruction of the complete limb and transparent-view reconstruction of the entire skeletal structure are effective technical advantages enabling a completely new visual perception of the unborn baby.

Clubfoot↗
PubMed1995

Ultrastructural and morphometrical analyses of Leydig and Sertoli cells in the testes of rats with hereditary polydactylism.

Rats of the polydactylous (PD) strain carry an autosomal recessive gene pd that causes polydactylism in homozygotes (pd/pd). Male homozygotes are sterile owing to an abnormality of spermatogenesis. In the present study, Leydig and Sertoli cells of 12-week-old pd/pd male rats were examined for ultrastructural alterations in an attempt to clarify the cause of the abnormal spermatogenesis. The relative volumes of the organelles were also determined with morphometry. Phenotypically normal pd/+ males served as controls. No morphological or morphometrical abnormalities were noted in the Leydig cells. However, two different types of Sertoli cell were evident: light cells and dark cells. The incidence of the dark Sertoli cells in pd/pd males was high (27%) compared with that in pd/+ males (6%). These dark cells contained quantities of lipid droplets in the cytoplasm and exhibited a significant increase in the relative volume of lipid droplets compared with the value for the light cells. The nuclei of the dark Sertoli cells were irregular in shape and were invaginated. These results suggest that dark Sertoli cells may have lower lipid metabolism, and in pd/pd males, the high number of these dark Sertoli cells may be related to abnormal spermatogenesis.

Animals↗
PubMed2005

Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome.

In Drosophila, mutations in the Twist gene interact with mutations in the Snail gene. We show that the mouse Twist1 mutation interacts with Snai1 and Snai2 mutations to enhance aberrant cranial suture fusion, demonstrating that genetic interactions between genes of the Twist and Snail families have been conserved during evolution.

Acrocephalosyndactylia↗
PubMed1994

Midline defects of the orofaciodigital syndrome type VI (Váradi syndrome).

The orofaciodigital syndromes (OFDS) represent a spectrum of anomalies of the palate, cranium, hands, and feet. Váradi syndrome, designated OFDS type VI, is a rare disorder that is additionally characterized by cerebellar anomalies. The following report is of a patient with OFDS VI and characteristic multiple midline defects: median cleft lip and palate, lingual cleft with nodules, and midline brain malformation. In addition, this case is uniquely associated with the presence of midline (metopic and sagittal) craniosynostoses as well. It is unusual that deformities which result from premature fusion of cranial vault sutures would appear synchronously in a syndrome based on the concept of failure of fusion or coalescence of facial growth centers. The midline represents an independent developmental field, whereby CNS defects and midline anomalies can present concurrently.

Cerebellum↗
PubMed1997

The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa.

PURPOSE: To investigate 20 patients affected with Bardet-Biedl (BB) syndrome and compare them to an age-matched group of 70 non-syndromic patients with retinitis pigmentosa (RP) to identify hallmarks peculiar to the BB phenotype. METHODS: Patients were examined clinically and with functional tests (color vision, kinetic perimetry, electroretinography, ocular motility tests). Fundus findings were numerically graded for statistical purposes. RESULTS: Recurrent ocular features in BB patients were early and severe reduction of visual acuity, constantly altered color vision, high incidence of strabismus and nystagmus, mild-to-severe atrophic changes of the optic disc, and frequently absent or minimal pigmentary retinal changes. Visual acuity was more closely correlated to optic disc than to macular conditions. These findings were remarkably different from non-syndromic RP. CONCLUSIONS: This investigation further suggests that retinopathy in BB syndrome has features distinctive from those in non-syndromic RP. The early occurrence of optic disc atrophy in the BB syndrome, even in those patients with healthy maculas, suggests that optic atrophy could often be primary in nature and might play a major role in decreasing central vision in BB patients. Variability of some findings is in line with the documented heterogeneity of the BB syndrome.

Abnormalities, Multiple↗
PubMed2004

Meckel Gruber syndrome: occurrence in non-consanguineous marriages.

Meckel Gruber syndrome is an uncommon, lethal, autosomal recessive disorder, associated consistently with polycystic kidneys, posterior encephalocoele and polydactly. We report three cases in non-consanguineous marriages, suggesting that the single gene defect occurs more commonly in non-consanguineous marriages than mutant genes associated with other autosomal recessive disorders that are usually related with consanguineous marriages. The usefulness of prenatal diagnosis is discussed.

Abnormalities, Multiple↗
PubMedDate not supplied

Synpolydactyly of the foot in homozygotes.

In 2002, we reinvestigated a large synpolydactyly kindred first described in 1995. It was found to have expanded with an increase in number of homozygous offspring. These homozygotes had severe hypoplasia, with synpolydactyly of their hands and feet. We present the clinical, genetic, and surgical findings of this deformity and the histologic findings of the removed bones of the heterozygous and homozygous members. There were 125 affected individuals (113 heterozygotes and 12 homozygotes) of 245 members of the past five generations. We identified seven marriages in which both spouses were affected. Twelve offspring from these marriages had homozygote genetic patterns, hypoplastic synpolydactyly of the hands, and a distinctive foot deformity, with a prominent great toe and syndactylized hypoplastic minor toes. From clinical and surgical perspectives, their hand and foot deformities were different from those of their parents. We surgically treated both feet of four individuals with this deformity, which we called "homozygote foot synpolydactyly." Clinically, the deformity consisted of a supinated prominent great toe, hypoplastic and severely synpolydactylized minor toes, and secondary problems. Radiographically, the bones were underdeveloped, unshaped, and largely fused. Abundant cartilage covering the bones was observed surgically and histologically. Genetically, analysis of HOXD13 identified a 27-base pair duplication with a homozygote pattern. The foot deformity of the homozygotes was so distinctive and complicated that it should be considered a separate foot synpolydactyly type--homozygote foot synpolydactyly.

Child↗
PubMed1997

Congenital defects in northern elephant seals stranded along the central California coast.

Eleven cases of congenital anomalies were identified in 210 (5%) juvenile northern elephant seals (Mirounga angustirostris) found stranded along the central California (USA) coast from 1 January 1988 to 31 December 1995. Seven individuals had mild-to-moderate hydrocephalus involving the lateral ventricles bilaterally, or the lateral and third ventricles. Two animals had severe cardiac anomalies: hypoplasia of the right ventricle with overriding aorta, and ventricular septal defect. Other anomalies included single cases of hydronephrosis, focal pulmonary dysplasia, and congenital epidermal angiomatosis. Common intercurrent disease processes were verminous pneumonia and arteritis, verminous enteritis and coliti, and splenic and hepatic hemosiderosis. The more severe anomalies were considered to be the cause of debilitation and stranding. Milder anomalies were found incidentally during routine gross necropsy and histopathologic examination.

Angiomatosis↗
PubMed1998

Three-dimensional ultrasonography of the fetal distal lower extremity: normal and abnormal.

The objective of this study was to compare two-dimensional and three-dimensional ultrasonographic evaluation of fetal distal lower extremities. Data from two-dimensional and three-dimensional ultrasonographic examinations from 40 distal lower extremities in 33 fetuses from a predominantly high-risk patient population were compared. Three-dimensional ultrasonography routinely provided three orthogonal planes (coronal, sagittal, and axial) for distal lower extremity evaluation. Specific features of distal lower extremity evaluation were not different using two-dimensional and three-dimensional ultrasonography. Rotation of the rendered volume provided assistance in assessing all but one of 40 distal lower extremities. Time from image acquisition to assessment for two views (coronal and sagittal) was longer with three-dimensional ultrasonography (8.2 min) than with two-dimensional ultrasonography (3.2 min). Confidence in the diagnosis of abnormal distal lower extremities was slightly improved using three-dimensional ultrasonography compared to two-dimensional ultrasonography. Pregnancy management was assisted in three of the four cases with isolated limb anomalies. In conclusion, three-dimensional ultrasonography improves the ability to evaluate the fetal distal lower extremity because of the multiplanar nature of volume assessment and the ability to rotate volume data sets. In addition, it provides assistance in counseling families, particularly for cases involving isolated limb anomalies.

Female↗
PubMed1999

High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.

Previously, we assigned the genes for two autosomal recessive disorders, Meckel syndrome (MKS; MIM 249000) and Mulibrey Nanism [MUL (muscle-liver-brain-eye Nanism); MIM 253250] that are enriched in the Finnish population, to overlapping genomic regions on chromosome 17q. Now, we report the construction of a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed to <1 cM between markers D17S1290 and 132-CA, within an approximately 800-kb region. The MUL locus was refined into an approximately 1400-kb interval between markers D17S1290 and 52-CA. The whole MKS region falls within the MUL region. In the common critical region, the conserved haplotypes were different in MKS and MUL patients. A trancript map was constructed by assigning expressed sequence tags (ESTs) and genes, derived from the human gene map, to the bacterial clone contig. Altogether, four genes and a total of 20 ESTs were precisely localized. These data provide the molecular tools for the final identification of the MKS and the MUL genes.

Chromosome Mapping↗
PubMed1999

Oral-facial-digital syndrome with acromelic short stature: a new variant--overlap with Ellis Van Creveld syndrome.

The Oral-Facial-Digital syndromes (OFDS) are a heterogeneous group of disorders having common oral, facial, and digital malformations. Here, we report a consanguineous family with a new variety of OFDS associated with acromelic short stature and genu valgum; the features overlapping with Ellis Van Creveld syndrome. One of the sibs has urinary incontinence and growth hormone deficiency, which has not been reported earlier in any type of OFDS in the literature.

Body Height↗