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PubMed2005

Placental improvement and reduced distal limb defects by maternal interferon-gamma injection in methylnitrosourea-exposed mice.

BACKGROUND: Methylnitrosourea (MNU), an alkylating agent derived from creatinine metabolism, is cytotoxic, genotoxic, and mutagenic. Mid-gestational exposure to MNU leads to distal limb defects in mice. Previous studies have shown that nonspecific maternal immune stimulation protects against MNU-induced teratogenesis. A role for immune-mediated placental improvement in this effect remains uncertain. METHODS: The immune system of timed-pregnant C57BL/6N and CD-1 mice was stimulated by GD 7 intraperitoneal (IP) injection with the cytokine interferon-gamma (IFN-gamma). A teratogenic dose of MNU was then administered by IP injection on the morning of GD 9 to disrupt distal limb formation. Fetal limb length, body length, digital deformities, and placental integrity were evaluated on GD 14. RESULTS: The incidence of syndactyly, polydactyly, and interdigital webbing in MNU-exposed mice was decreased by maternal IFN-gamma treatment. In C57BL/6N mice, these defects were reduced by 47, 100, and 63%, respectively, as compared to previous reports on CD-1 mice, by 39, 71, and 20%, respectively. Administration of IFN-gamma significantly diminished MNU-induced endothelial and trophoblast placental damage in both strains of mice. CONCLUSIONS: These findings support a possible link between maternal immunity, placental integrity, and fetal distal limb development. Further, these results suggest that IFN-gamma might act through placental improvement to indirectly protect against MNU-induced fetal limb malformations.

Abnormalities, Drug-Induced↗
PubMed2006

Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.

BACKGROUND: Pfeiffer syndrome (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable syndactyly. CASE: We report a case of PS (type 3) with tracheal and visceral involvement and sacrococcygeal eversion. The patient shows facial dysmorphism with macrocephaly, dolichocephaly, and trigonocephaly, and an asymmetric skull, bilateral and severe exophthalmia with shallow orbits and ocular hypertelorism, downslanting palpebral fissures, constant strabismus, short anterior cranial base, and midface hypoplasia. CONCLUSIONS: Molecular analysis of the FGFR2 gene in this patient revealed a point mutation (c.890G>C NM_000141). This mutation leads to the substitution of the residue tryptophan at position 290 to cysteine in the protein (p.Try290Cys). These data reinforce the hypothesis that the p.Trp290Cys mutation is more often associated with a severe and poor prognosis of PS. Furthermore they suggest that the presence of sacrococcygeal defects is not associated with any specific FGFR2 mutation.

Acrocephalosyndactylia↗
PubMed2003

Induction of developmental toxicity in mice treated with Alstonia scholaris (Sapthaparna) In utero.

BACKGROUND: The teratogenic effect of hydroalcoholic extract of Alstonia scholaris (ASE) was studied in the pregnant Swiss albino mice administered with 0, 60, 120, 240, 360, and 480 mg/kg ASE on Day 11 of gestation. METHODS: Females were allowed to complete the term and parturiate. The litters were monitored regularly for mortality, growth retardation, congenital malformations, and appearance of physiological markers up to 7 weeks post-parturition (p.p.). RESULTS: The administration of 60, 120, 180, and 240 mg/kg ASE to the pregnant mice on Day 11 did not induce mortality, congenital malformations, or alter the normal growth patterns. A further increase in the herbal extract dose up to 360 or 480 mg/kg resulted in a dose dependent increase in the mortality, growth retardation, and congenital malformations, characterized mainly by bent tails and syndactyly. The administration of higher doses (360 or 480 mg) of ASE also caused a significant delay in the morphological parameters such as fur development, eye opening, pinna detachment, and vaginal opening. The incisor eruption and testes decent were found to be delayed in litters born to the mothers treated with 240-480 mg/kg ASE. CONCLUSIONS: Our study indicates clearly that ASE treatment caused teratogenic effect only at doses above 240 mg/kg (>20% of LD(50)). Lower doses had no developmental toxicity.

Abnormalities, Drug-Induced↗
PubMed2004

Effect in rats of simultaneous prenatal exposure to ochratoxin A and aflatoxin B1. I. Maternal toxicity and fetal malformations.

Ochratoxin A (OA) and Aflatoxin B1 (AFB1), the food borne mycotoxins are produced by several fungal species of the genera Aspergillus and Penicillium. To determine the teratogenic effects, these mycotoxins were administered orally either individually or in combination to the pregnant Wistar rats on days 6-15 of gestation. OA and AFB1 were dissolved in corn oil and different doses of OA (0.125, 0.25, 0.50, and 0.75 mg/kg), AFB1 (0.125, 0.25, 0.50, and 1.00 mg/kg), and a combination of OA+AFB1 (0.125+0.125; 0.25+0.50; 0.50+0.25 mg/kg) were given by gastric intubation to rats. During dosing period, the body weight and body weight gains significantly decreased at a higher dosage, in both individual and combined treatments. In all the combination treatments, the percent implants resorbed, fetal body weights, and crown-rump lengths were comparable to those of controls and with the individual mycotoxin treatment. The number of dead fetuses was significantly increased in the high OA combination (OA+AFB1 0.50+0.25) group as compared with the other two combinations. OA and AFB1 alone and in combination caused various gross, skeletal, and visceral anomalies. The occurrence was considerably less pronounced in fetuses of AFB1 and combination groups as compared with those of OA group fetuses. The exencephaly, incomplete closure of skull, wavy and fused ribs, agenesis of the ischium bone, and enlarged renal pelvis, recorded in OA treatment and ear abnormality and incomplete ossification of skull bones observed in AFB1 when given individually, were not seen in combination groups. However, new manifestations, such as gastroschisis and syndactyly were observed and the incidence of cardiac defects was increased in fetuses due to the combined treatment. The results of the present study indicated that there is some interaction between these mycotoxins that resulted in reduced teratogenic activity of OA in the presence of AFB1. Apparently, new manifestations observed in combination treatment points to the potential threat of teratogenicity in terms of public health hazards.

Abnormalities, Drug-Induced↗
PubMed2006

Klippel-Trenaunay syndrome associated with polydactyly.

Klippel-Trenaunay syndrome (KTS) manifests cutaneous vascular nevus, superficial venous varicosities, and hypertrophy of the affected limb. KTS may be associated with other developmental anomalies such as polydactyly, syndactyly, and macrocephaly. We present a case with KTS associated with polydactyly.

Adult↗
PubMed2007

Crim1KST264/KST264 mice display a disruption of the Crim1 gene resulting in perinatal lethality with defects in multiple organ systems.

Crim1 is a transmembrane protein, containing six vWF-C type cysteine-rich repeats, that tethers growth factors to the cell surface. A mouse line, KST264, generated in a LacZ insertion mutagenesis gene-trap screen, was examined to elucidate Crim1 function in development. We showed that Crim1(KST264/KST264) mice were not null for Crim1 due to the production of a shortened protein isoform. These mice are likely to represent an effective hypomorph or a dominant-negative for Crim1. Transgene expression recapitulated known Crim1 expression in lens, brain, and limb, but also revealed expression in the smooth muscle cells of the developing heart and renal vasculature, developing cartilage, mature ovary and detrusor of the bladder. Transgene expression was also observed in glomerular epithelial cells, podocytes, mesangial cells, and urothelium in the kidney. Crim1(KST264/KST264) mice displayed perinatal lethality, syndactyly, eye, and kidney abnormalities. The severe and complex phenotype observed in Crim1(KST264/KST264) mice highlights the importance of Crim1 in numerous aspects of organogenesis.

Abnormalities, Multiple↗
PubMedDate not supplied

Prenatal sonographic diagnosis of Neu-Laxova syndrome.

We report the sonographic diagnosis of Neu-Laxova syndrome in a fetus at 27 weeks' menstrual age. The parents were first cousins. Sonography revealed microcephaly, a sloping forehead, exophthalmos, a small thorax and abdomen, hypoplastic lungs, syndactyly, hyperextended knees, polyhydramnios, a small placenta, and intrauterine growth restriction. The long bones were normal. The calvaria was hyperechoic and associated with shadowing, obscuring any intracranial abnormalities. This sonographic finding was presumed to represent calvarial calcification, not previously described with this syndrome. We believe that Neu-Laxova syndrome can be reliably diagnosed prenatally by demonstrating the sonographic features described, although other conditions with similar sonographic features need to be considered in the differential diagnosis.

Abnormalities, Multiple↗
PubMed1984

Histogenesis in 11-day mouse embryo limb buds explanted in organ culture.

Fore- and hindlimb buds from 11-day mouse embryos with 40 to 52 somites (including the four occipital pairs) were explanted in organ culture and submitted to systematic histological analysis. Chondrogenesis occurs normally in culture in all preskeletal rudiments which were already represented by condensed blastemas before explantation. In the proximal territories, the progress of cartilage differentiation occurs according to the normal pattern and can be revealed histologically much earlier than in bulk preparations. In all explanted hindlimbs as well as in forelimbs from embryos with less than 50 somites, a primary coalescence occurs between the IId and IIId digital rays, leading to various fusions from soft tissue syndactyly to oligosyndactyly. This is the result of two combined unfavorable effects of the culture conditions: the lack of simultaneous volumetric growth of the foot- or handplate, which normally would provide the necessary space for the laying down of a pentadactylous pattern, and a loss of cells resulting from abnormal cell death affecting selective mesodermal sites in the zeugopod and in the marginal subridge area, the latter being more severely affected in hindlimb buds. Several observations suggest that the preferential sensitivity of the marginal mesoderm might be related to early changes in the apical ectoderm, which itself becomes excessively necrotic and rapidly looses its pseudostratified configuration. The forelimb buds from embryos with 50 somites and more usually develop a pentadactylous pattern with a better individuation of digital structures. In all explants, the prospective mesoderm of digit I exhibits stronger regulatory tendencies.

Animals↗
PubMed2003

Patterns of ossification in the manus of the harbor porpoise (Phocoena phocoena): hyperphalangy and delta-shaped bones.

With the transition from terrestrial to aquatic habitats, cetacean forelimbs have undergone significant modifications in bone morphology and soft tissue distribution. Some, but not all, of these modifications are also demonstrated in other lineages of extant and extinct secondarily aquatic tetrapods. This study examines the ontogenetic pattern of ossification of the manus of the harbor porpoise (Phocoena phocoena), using plain film radiography. Two modifications examined are hyperphalangy (number of phalanges per digit increased beyond the typical mammalian number) and the morphology of delta-shaped bones. Hyperphalangy in Phocoena phocoena is apparent in digits 2 and 3. Phalangeal counts in all digits are variable (sometimes between the right and left flippers of the same individual) and are not necessarily correlated with age. Phalangeal ossification and epiphyseal fusion proceeds along the proximo-distal axis within each digit. In addition, digits 2 and 3 are at a more advanced stage of ossification than more abaxial digits. Delta-shaped bones appear to be a normal stage in the ossification of phalanges in all digits except the third, and may persist in the adult in certain digits. In humans, this morphology is a developmental anomaly usually associated with other malformations, such as polydactyly or syndactyly. Delta-shaped bones in the cetacean manus display a consistent orientation and the process by which they are formed may be similar to that in extinct marine reptiles.

Age Factors↗
PubMed2000

Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36.

Triphalangeal thumb is an autosomal dominantly inherited form of abnormal preaxial skeletal development. In most families, however, the triphalangeal thumb phenotype coexists with a spectrum of limb deformities, including polydactyly and syndactyly. We describe two Iowa kindreds with triphalangeal thumb. In one family, with nine affected members, triphalangeal thumb was the only manifestation of limb deformity. We performed linkage analysis on both pedigrees, demonstrating a maximum LOD score of 6.23 with marker D7S559 on chromosome 7q36. This corresponds to a previous study of a candidate region of 450 kb in which data from several families with preaxial polydactyly were employed. Further analysis of the unique family with isolated triphalangeal thumb in the current study may demonstrate allelic variability of the gene involved in these disorders.

Chromosome Mapping↗
PubMed2005

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature.

OBJECTIVES: To report a case of EEC syndrome with a large nephrogenic cyst detected by prenatal ultrasonography. METHODS: Prenatal ultrasonographic detection, genetic counselling, termination of pregnancy, radiographic study, autopsy and ultrastructural study of scalp hair. The literature on EEC syndrome with genitourinary anomalies and prenatal diagnosis was also reviewed. RESULTS: A 6-cm cyst in the right side of abdominal cavity was detected in a fetus of 24 weeks' gestational age with severe oligohydramnios and hydrops fetalis. The autopsy revealed bilateral renal dysplasia with a large nephrogenic cyst at the right side and markedly hypoplastic urinary bladder and pulmonary hypoplasia. The fetus also had ectrodactyly and syndactyly of hands and feet and ectodermal dysplasia and left cleft lip and palate. Ultrastructure of hair from scanning electron microscopy revealed no obvious abnormality. CONCLUSION: This is a rare case of fetal malformation partly detected prenatally. In order to detect this syndrome, careful ultrasound search for acral anomalies should be performed in cases with renal malformation or obstructive uropathy.

Abnormalities, Multiple↗
PubMed2005

Prenatal diagnosis of trisomy 6 mosaicism.

We report on a fetus with multiple congenital anomalies detected at the prenatal ultrasound examination and a trisomy 6 mosaicism in the amniocytes. The pregnancy was interrupted in the 18th gestational week and the autopsy revealed malformations including cleft right hand, arthrogryposis and hypoplasia of the 4th digit of the left hand, syndactylies and overlapping toes, facial dysmorphism with hypertelorism and low-set ears, ventricular septum defect (VSD), intestinal malrotation and scoliosis. Trisomy 6 mosaicism was detected in cultured amniocytes (13.3%), confirmed in umbilical cord fibroblasts (40%) and by fluorescence in situ hybridization on other fetal tissues. Trisomy 6 mosaicism is a very rare finding with only eight cases previously reported to our best knowledge.

Abnormalities, Multiple↗
PubMed1983

A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism.

A fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13). Termination of the pregnancy yielded a severely malformed fetus. Fetal abnormalities included anencephaly, imperforate anus and urethral meatus, severe talipes, syndactyly, cardiac defects and other anomalies. Confirmatory studies on cultured placental villi cells indicated a second cell line, 46,XY, -13,+13qter leads to cen::13q13 leads to qter. This cell line was not detectable in cells derived from the fetus despite extensive studies. It seems likely that the two cell lines arose simultaneously with selection favouring the 46,XY,r(13) line. How the chromosome rearrangements may have arisen is discussed. We are unaware of other cases where a cell line identifiable by a chromosome abnormality appeared to be confined to placental tissue. However, studies on placental tissue may be helpful in understanding the origin of other unbalanced de novo rearrangements.

Abnormalities, Multiple↗
PubMed1994

Congenital malformations subsequent to chorionic villus sampling: outcome analysis of 1048 consecutive procedures.

We wished to identify the types and frequencies of malformations among continuing pregnancies exposed to chorionic villus sampling (CVS) and to determine whether selected procedure-related variables differ between the normal and anomalous cohorts. CVS was performed in 1048 patients between May 1988 and January 1992. Prospective assessment of perinatal outcome was ascertained by (1) physician-patient phone contact within 1 week of sampling, (2) ultrasound evaluation of the fetal anatomy at mid-gestation, (3) a detailed post-partum questionnaire completed by the referring obstetrician, and (4) a telephone interview with each patient after the expected date of confinement. Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), polydactyly (2), syndactyly, distal extremely hemimelia, anencephaly, hydrocephalus, cleft lip and palate, omphalocele, diaphragmatic hernia, thanatophoric dysplasia, and unilateral cataract. Normal and anomalous cohorts were similar with respect to sampling method (transabdominal/transcervical ratio), mean gestational age at CVS, single-pass success rate, and mean total sample weight. No relationship between any procedure-related variable and the risk of malformation was observed.

Chorionic Villi Sampling↗
PubMed2003

First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature.

Initially described in 1972, Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, ankyloblepharon, cleft lip and palate, filiform bands between the jaws, syndactyly, and other anomalies. Although described as lethal, review of the literature reveals three individuals who survived into childhood with this condition. We describe a fourth surviving patient and what we believe to be the first prenatal diagnosis of BPS in the first trimester.

Abnormalities, Multiple↗
PubMed2003

Prenatal diagnosis of Apert syndrome: report of two cases.

Two de novo cases with Apert Syndrome detected prenatally are presented herein. In the first, fetal ultrasound findings of syndactyly of the hands, craniosynostosis and proptosis resulted in a prenatal diagnosis in the nineteenth week of gestation. This is the earliest prenatal diagnosis of this syndrome in a not-at-risk case. Following counseling, this pregnancy was terminated and subsequent pathological examination and DNA analysis confirmed the diagnosis of Apert Syndrome and coarctation of the aorta. In the second case, fetal ultrasound at 21 weeks' gestation revealed a hypoplastic left heart and clover-leaf skull. Following counseling, this pregnancy was also terminated. Further examination of the fetus and DNA analysis led to a diagnosis of Apert Syndrome. These cases emphasize the need to complete a thorough fetal ultrasound in cases with potentially lethal cardiac abnormality and the importance of incorporating a fetal pathologist, as well as a medical geneticist, in the investigations performed after delivery or pregnancy termination when a fetal abnormality is detected on ultrasound.

Abortion, Induced↗
PubMed1984

Mouse limb bud development in submerged culture: quantitative assessment of the effects of in vivo exposure to retinoic acid.

Retinoic acid, suspended in cottonseed oil, was administered via gavage to pregnant mice (ICR strain) on day 11 (E 11) of gestation at doses of either 20, 40, or 80 mg/kg. Fetuses were examined for external malformations on day 17 (E 17). Retinoic acid treatment induced micromelia (with the elimination of several long bones at higher doses) and digital defects (ectrodactyly and syndactyly) in a dose-dependent manner in fetuses examined on day 17. Hindlimbs were affected more than forelimbs. In another group of experiments, limbs exposed to retinoic acid treatment in utero on E 11 were cultured on E 12 and maintained for 3 days in submerged culture. Cultured limbs were examined qualitatively for digital and long bone defects, and image analysis of the area and form of bone anlagen of cultured limbs was used to quantitatively evaluate the teratogenic potential of retinoic acid. The qualitative evaluation indicated that the retinoic acid-induced effects obtained in vivo and with pretreated, cultured limbs were essentially the same, except that the severity of regional effects changed as a result of culture. The incidence of ectrodactyly was higher with cultured limbs than with E 17 fetal limbs, but fewer cultured limbs were missing long bones. These results suggest that culturing limbs, after they have been pretreated in utero, modifies their response to a teratogen and demonstrates that the paw skeleton is extremely sensitive to teratogen treatment under these experimental conditions. Therefore, care must be exercised when attempting to compare in vivo and in vitro teratogenic data. This study also clearly demonstrates the power and usefulness of image analysis for quantitative evaluation of both the area and form of a cultured specimen such as the developing limb bud. Quantitative, image analysis of cultured limbs showed a dose-dependent decrease in area of both fore- and hindlimbs. The effect was most severe in hindlimbs. In the forelimb, the paw was affected more than the long bones; as the dose increased, this disparity of effect also increased. With the hindlimb, a greater effect on the paw occurred only at 80 mg/kg. Computing the soft tissue/bone ratio illustrated that retinoic acid had a greater effect on chondrogenic tissue than on soft tissue.

Abnormalities, Drug-Induced↗
PubMed1990

Suppressive effects of two bioresponse modifiers, krestin and levamisole, on 5-azacytidine-induced digital defects in rats.

The effects of two bioresponse modifiers, krestin (PSK) and levamisole hydrochloride (levamisole), on 5-azacytidine (5-AC)-induced syndactyly, brachydactyly, and ectrodactyly were investigated. Both PSK and levamisole suppressed 5-AC-induced digital malformation in the rat. The effect of PSK was significant when given 24 h before to 1 h after 5-AC treatment, and levamisole when given 12 h before to 3 h after treatment. Both agents showed an immune-stimulating effect and have been used as cancer chemotherapeutic drugs. However, as the contribution of fetal or maternal immune functions or the alleviation action is unknown, further investigations are required to clarify the mechanism.

Animals↗