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PubMedDate not supplied

PMEDAP and its N6-substituted derivatives: genotoxic effect and apoptosis in in vitro conditions.

Genotoxic properties expressed as acquired chromosomal aberrations and induction of apoptosis after treatment with acyclic nucleoside phosphonates PMEG, PMEDAP and its N6-substituted derivatives Me2NEt-PMEDAP, allyl-PMEDAP, Me2-PMEDAP and cypr-PMEDAP, were studied in in vitro conditions. The genotoxic and antiproliferative effect of compounds was investigated on CCRF-CEM, HeLa S3, MRC-5 and Reh cell lines. PMEG and cypr-PMEDAP exhibit high genotoxic and cytostatic effect. PMEDAP and its N6-substituted derivatives Me2NEt-PMEDAP, allyl-PMEDAP and Me2-PMEDAP are considerably less genotoxic. Time- and dose-dependent suppression of proliferation by these nucleotide analogues is accompanied by induction of apoptosis, which is dependent on cell line type. However, an increased proliferation was observed after treatment of the cell culture with very low dose of PMEDAP. The sensitivity of cell lines to PMEDAP decreased in the order: CCRF-CEM > Reh > HeLa > MRC-5. The potential embryotoxic or teratogenic effect of PMEDAP and cypr-PMEDAP was examined in inbred rats involving the mutant allele Lx that determines the polydactyly-luxate syndrome. While the prevalent effect of cypr-PMEDAP during fetus development is embryolethality, PMEDAP did not induce any embryo-lethal or teratogenic effect.

Adenine↗
PubMed2004

The newborn foot.

An examination of the feet is an essential component of an evaluation of a newborn. A thorough examination can be performed quickly. Despite its small size, the newborn foot is a complex structure. Most deformities can be diagnosed easily with physical examination alone, using few diagnostic studies. A thorough examination includes assessment of vascular, dermatologic, and neurologic status of the lower extremities, and observation, palpation, and evaluation of joint range of motion in both feet. Common newborn foot abnormalities include metatarsus adductus, clubfoot deformity, calcaneovalgus (flexible flatfoot), congenital vertical talus (rigid flatfoot), and multiple digital deformities-polydactyly, syndactyly, overlapping toes, and amniotic bands. Most treatments include conservative measures, such as observation, stretching, and splinting, which can be performed easily in the family medicine setting. Cases that require surgical correction should be referred to a subspecialist with expertise in correcting lower extremity deformities in children. When surgery is indicated, procedures generally are postponed for six to nine months so that the child will better tolerate anesthesia.

Foot↗
PubMed2004

[Oral-facial-digital syndrome type I. A case report].

Oral-facial-digital syndrome type I (OFDI) is a congenital X-linked dominant disorder characterized by anomalies of the oral cavity, face and digits sometimes associated to cerebral malformations and polycystic kidney disease. The gene, responsible for this syndrome, is ofd1. Clinically it is seen only in females. Lesions of the mouth include median pseudoclefting of the upper lip, clefts of the palate and tongue, and dental anomalies (missing or supernumerary teeth, enamel hypoplasia, and teeth malpositions). Dysmorphic features affecting the head include hypertelorism, frontal bossing, micrognathia, facial asymmetry and broadened nasal ridge. The digital abnormalities are syndactyly, clinodactyly, brachydactyly and, rarely, pre or post-axial polydactyly. Less frequently ex-pressed phenotypic anomalies include skin milia, alopecia, deafness and trembling. Sometimes the diagnosis of OFDI can be difficult because there is an overlap with other types of oral-facial-digital syndromes. A sporadic case of OFDI, with 7 lower incisors, both in the primary and permanent dentition, is reported. This dental anomaly is very unusual because in literature only supernumerary cuspids are reported. In the light of this case, the authors discuss the oral phenotypic expression of ofd1 gene and its role in human odontogenesis.

Child↗
PubMed2004

Patau syndrome with a long survival. A case report.

Trisomy 13 is a clinically severe entity; 85% of the patients do not survive beyond one year, and most children die before completing six months of age. We report a female child, 28 months old, white, the fourth child of a non-consanguineous couple, who presented trisomy 13. The child was born at term, from a vaginal delivery, weighing 2600 g. At birth, she was cyanotic, icteric, spastic, and cried weakly. The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas distributed throughout the body, cardiomegaly, and perimembranous inter-ventricular communication. There was no cleft lip or palate. On physical examination at 18 months old, the child weighed 6,900 g, had a cephalic perimeter of 41 cm, a thoracic perimeter of 43 cm and was 76 cm tall. At 28 months, she weighed 10,760 g and was 88.5 cm tall. Neuropsychomotor development retardation was evident from birth and, according to the psychologist and the social assistant of APAE (Handicapped Parents and Friends Association) in Canguçu, Rio Grande do Sul, there was a noticeable improvement after physiotherapy and recreational sessions.

Abnormalities, Multiple↗
PubMed2004

A review of 35 cases of asymmetric crying facies.

A review of 35 cases of asymmetric crying facies: Congenital asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle (DAOM) on one side of the mouth. It is well known that this anomaly is frequently associated with cardiovascular, head and neck, musculoskeletal, respiratory, gastrointestinal, central nervous system, and genitourinary anomalies. In this article we report 35 ACF patients (28 children and 7 adults) and found additional abnormalities in 16 of them (i.e. 45%). The abnormalities were cerebral and cerebellar atrophy, mega-cisterna magna, mental motor retardation, convulsions, corpus callosum dysgenesis, cranial bone defect, dermoid cyst, spina bifida occulta, hypertelorism, micrognatia, retrognatia, hemangioma on the lower lip, short frenulum, cleft palate, low-set ears, preauricular tag, mild facial hypoplasia, sternal cleft, congenital heart defect, renal hypoplasia, vesicoureteral reflux, hypertrophic osteoarthropathy, congenital joint contractures, congenital hip dislocation, polydactyly, and umbilical and inguinal hernia. Besides these, one infant was born to a diabetic mother, and had atrial septal defect and the four other children had 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance, respectively Although many of these abnormalities were reported in association with ACF, cerebellar atrophy, sternal cleft, cranial bone defect, infant of diabetic mother, 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance were not previously published.

Abnormalities, Multiple↗
PubMed2005

Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.

Ellis-van Creveld (EVC) syndrome (chondroectodermal dysplasia, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth. Oral manifestations tend to be pathognomonic such as multiple broad labial frenula and congenital missing teeth. In this study we report three Egyptian families with six cases of EVC syndrome. An unusual pattern of inheritance with father to son or to daughter transmission was observed in 2 consanguineous families thus demonstrating pseudo-dominant inheritance, probably for the first time in the literature. A new consistent orodental anomaly found in all our cases was bifid tip of the tongue. We emphasize study of orodental anomalies in future cases for accurate diagnosis of Ellis-van Creveld syndrome and its probable differential diagnosis from Weyers acrodental dysostosis.

Adolescent↗
PubMed2005

[From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome].

Ellis-van Creveld syndrome is an autosomal recessive disorder characterised by short stature with short limbs, postaxial polydactyly and congenital cardiac defects. The syndrome can be caused by mutations in the EVC gene or the EVC2 gene. The genes are located close to each other in a head-to-head configuration on chromosome 4p16. Clinical diagnosis can be confirmed by DNA analysis, which is currently offered by two laboratories in Italy.

DNA↗
PubMed2003

Birth defects ascertainment in the Philippines.

In the Philippines, congenital anomalies rank among the top 20 causes of death across the life span and are already the third leading cause of death in the infancy period (Philippine Department of Health, 1996). Despite the magnitude of the problem, no formal systematic registration of birth defects has been done in the country up until 1999. Various attempts have been made by different study groups to gather data but there was never a formal effort to consolidate the information and establish a centralized registry. Data from various modes of ascertainment are hereby presented: 1) Philippine Birth Defects Registry Project, 2) Hospital In-Patient and Out-Patient Registries, 3) Prenatal Inventory and Neonatal Outcome Study Group, 4) Hospital Pathology Reports, and 5) Community Outreach Programs. Birth Defects Registry Project had the largest reporting of the different methods presented here. The most common birth defects were multiple congenital anomalies, congenital malformations of the tongue, mouth, and pharynx (ankyloglossia), cleft palate with cleft lip, Down Syndrome, congenital deformities of the feet (talipes equinovarus), anencephaly, other congenital malformations of the face and neck, congenital malformations of the musculoskeletal system (diaphragmatic hernia, gastroschisis), hypospadias, congenital hydrocephalus, polydactyly, syndactyly, and cleft lip.

Congenital Abnormalities↗
PubMed2005

[Prevalence of major external birth defects in high and low risk areas in China, 2003].

OBJECTIVE: To study the prevalence rates of birth defects in high and low risk areas in China. METHODS: A population-based surveillance system on birth defects was used to obtain the prevalence rates of 24 kinds of major external birth defects from > or = 20 weeks of gestation to 7 days of life in selected areas in Shanxi and Jiangsu provinces. RESULTS: The birth prevalence of birth defects (232.4 per 10,000 births) and neural tube defects (NTDs) (138.7 per 10,000 births) in four counties of Shanxi province were significantly higher than that in Taiyuan city (75.3 and 28.2 per 10,000 births, respectively). There was no significant difference for all selected birth defects between Wuxi city and Xishan counties in low risk areas. There was a 6.1-fold of higher prevalence for NTDs in Taiyuan city compared with that in Wuxi areas (4.6 per 10,000 births). In four counties of Shanxi province, the prevalence rates of anencephaly, spina bifida, hydrocephaly, cleft palate alone and polydactyly were significantly higher than in Wuxi areas. The NTDs prevalence rate in four counties of Shanxi was 30.2 times higher than in Wuxi areas. When compared with previous surveillance data, the NTDs prevalence rate did not present obvious declining trend in high risk areas. The birth prevalence rate had a 31.8% decrease when births were calculated after 28 gestational weeks and compared with those from 20 gestational weeks. CONCLUSION: NTDs remained to be the most common birth defect seen in Shanxi province. The birth prevalence rate of NTDs in some areas of Shanxi province was among the highest that ever reported in the world in comparison with data from other countries and regions. The current prevalence rate in high risk areas in Shanxi province did not clearly show a declining trend. Programs on surveillance and prenatal diagnosis were proved to have made big impact on the rates of major external birth defects.

China↗
PubMed1992

Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3.

Report on the child of normal unrelated parents presenting the typical features of acrocallosal syndrome (craniofacial dysmorphy, mental deficiency, convulsive disorder, agenesis of corpus callosum, preaxial polydactyly "hallux duplex" of both feet, and in addition diabetes insipidus) in which a mirror duplication of nearly the entire short arm of chromosome 12 was discovered. Since the symptomatology of trisomy and tetrasomy 12p shows some overlap with acrocallosal syndrome a common origin of the monogenic disorder and the chromosomal phenotypes is discussed.

Abnormalities, Multiple↗
PubMed2005

Prevalence of isolated minor congenital anomalies in a regional hospital in Oman.

OBJECTIVE: To study the prevalence of isolated minor congenital anomalies in a regional hospital in Oman. METHODS: We determined the prevalence of isolated minor congenital anomalies in 21988 births during a 10-year period from January 1993 through December 2002 by using data from the hospital-based congenital anomaly register at Nizwa Hospital, Oman. RESULTS: The total prevalence of congenital anomalies was 37 per 1000 births and that of minor anomalies 12.4 per 1000 births. Hypospadias, talipes deformity and polydactyly were the most common minor anomalies. A nurse or the house resident detected most of the minor anomalies soon after birth during routine neonatal examination. CONCLUSION: The study demonstrates the important contribution of minor congenital anomalies to the total prevalence of congenital anomalies. An accurate estimation of the prevalence rates of isolated minor anomalies should be possible as they are easily identifiable with minimal expertise. Case classification of congenital anomalies is important so that case groups are homogeneous and more comparable.

Congenital Abnormalities↗
PubMed2005

[25 years' history of Váradi-Papp syndrome (orofaciodigital syndrome VI].

INTRODUCTION: In 1978 the authors studied a male gypsy child with a multiple malformation syndrome. In this gypsy colony further five cases were found with similar features. The characteristic syndrome was published in 1980. Subsequently, the syndrome has been quoted as Váradi-Papp syndrome. AIM: To present the 25-year follow-up of this multiple malformation syndrome. RESULTS: The most common features of 29 affected children with this syndrome consists of orofacial (facial dysmorphism, cleft lip and/or palate abnormality, lingual nodule or tumor of the tongue, buccoalveolar frenula, alveolar and dental abnormalities, strabismus), cerebral/cerebellar (deformation of the skull, semilobar holoprosencephaly and/or absence or dysgenesis of cerebellar vermis or corpus callosum or hypothalamus or pituitary gland), digital (metacarpal abnormalities with central polydactyly, reduplication of the big toes) and genital (cryptorchidism, micropenis) anomalies. The patients are growth-retarded and when survival occurs psychomotor retardation is present. Accumulation of consanguinity and because of the involvement of multiple siblings in these families supports the autosomal recessive inheritance. CONCLUSION: Fetal Váradi-Papp syndrome using ultrasonography in the mid-trimester both in routine screening and detailed scanning can be detected, and termination of pregnancy can be offered to the parents.

Humans↗
PubMedDate not supplied

[Syndrome of craniosynostosis with syn- or polydactylia].

Since the first description of the acrocephalosyndactyly syndrome, type Apert, in 1906, numerous entities belonging to this group of disorders have been defined. Recently several families with various types of craniosynostosis have been published. Moreover, most of the types of acrocephalosyndactylia have been observed with polydactyly, rendering exact diagnosis more and more difficult. Hence it seems necessary to revise the classification of these disorders. The paper gives a survey of the craniosynostosis syndromes and a classification for genetic counseling is proposed.

Abnormalities, Multiple↗
PubMed1991

Anomalies of the fingers and toes associated with Klippel-Trenaunay syndrome.

Klippel-Trenaunay syndrome is a rare congenital malformation characterized by a large angiomatous nevus; hypertrophy of soft tissue or overgrowth of bone, or both; and venous varicosities. The cases of 108 patients who had a diagnosis of this syndrome between 1956 and 1990 were reviewed. One hundred and twenty-six anomalies were found in twenty-nine patients, each of whom had one to thirteen malformations of the fingers or toes, or both. The ratio of female patients to male patients was approximately two to one. Twenty-six patients had macrodactyly affecting one to six digits; nine, syndactyly involving two or more digits; five, metatarsus primus varus; two, clinodacytly; two, polydactyly; one, camptodactyly; and one, a congenital trigger finger. Thirty-three of the 126 anomalies were in extremities that had no nevi, varicose veins, or generalized hypertrophy.

Adolescent↗
PubMed2006

[Polyphalangism--a rare anomaly].

Polyphalangism/hyperphalangism is a very rare autosomal dominant anomaly. Polyphalangism is characterized by an extra phalanx between two other phalanges. The abnormality is distinguished from polydactyly in that there are more phalanges in a finger but no more than five fingers to a hand. Polyphalangism can be part of various syndromes, but isolated polyphalangism is very rarely seen. We report the first case of polyphalangism/hyperphalangism in the Danish literature.

Abnormalities, Multiple↗
PubMed2006

[Capacity of monitoring system on birth defects during 1990s in China].

OBJECTIVE: To understand the status and capacity of monitoring system on birth defects in China. METHODS: Data regarding 27 groups of birth defects from 57 monitoring programs in World Atlas of Birth Defects (2nd Edition) published by WHO/ICBDMS/EUROCAT/HGP and descriptive analysis by their ranking and contribution were carried out. RESULTS: Both hospital-based (Chinese Birth Defects Monitoring Network, CBDMN) and population-based (Birth Defect Surveillance System in Thirty Counties of Four Provinces, Beijing) monitoring systems showed the same characteristics as below: (1) Not enough groups were monitored, with trisomy 13/18 and congenital heart disease not reported. (2) Prevalence on those 'easily observed' group was high and cleft lip with or without cleft palate in CBDMN ranked 5 among 57 programs, with similar situation in polydactyly. (3) While prevalence rates of internal system and choromosal anomaly were low, CBDMN ranked 56 with Beijing the only non-reported city among all the 57 programs. (4) Unreasonable relationship was seen with prevalence of cleft lip was 5.76,4.02 times higher than that of cleft palate in CBDMN and in Beijing program. Which was 1.58 times of the world's means. Prevalence rates of anencephaly and total anotia/microtia rose 10.39% while spina bifida, hydrocephaly, and gastroschisis had a 4%-5% increase. The prevalence of hypospadias decreased by 4.13% and Down syndrome by 3.02%. CONCLUSION: The capacity of birth defects monitoring, both hospital-based and population-based, was poor in the 1990s, in China.

Capacity Building↗
PubMed1991

McKusick-Kaufman syndrome: report of the 66th case complicated by a staphyloma of the left eye.

Sixty-five cases of the Kaufman-McKusick syndrome, an autosomal recessive disorder, have been thus far reported in the literature. In the female, hydrometrocolpos and postaxial polydactyly are the prominent features of the disorder, and together with congenital heart disease form the distinctive triad of symptoms characterizing this entity. Since the initial reports, multiple other anomalies have been reported in the affected patients. Hydrometrocolpos, especially if unrecognized, may be a life-threatening condition in the newborn girl. We present a child with the features of the syndrome, and a staphyloma of the left eye, which necessitated its enucleation.

Abnormalities, Multiple↗
PubMed1991

Developmental toxicity of cadmium in mice. I. Embryotoxic effects.

Embryotoxic effects of CdCl2 administered in a single dose of 2.0, 4.0 or 6.0 mg/kg body weight to randombred ICR mice (Velaz) on the 8th, 9th, 10th, 11th, 12th, 13th or 14th day of pregnancy were studied. The embryolethal effect, being highest after treatment with 6.0 mg/kg CdCl2 on the 12th and 13th day of pregnancy (50.0 and 61.3%) was not significantly correlated to the day of treatment. Among survivors, foetuses with haemorrhagic bullae, limb malformations, exencephaly, cleft palate, open eyelids and tail deformities occurred. Mainly the right-sided limbs were malformed. The administration of 2.0 and 4.0 mg/kg CdCl2 on the 10th day of pregnancy induced fore limb polydactylies, whereas with the dose of 6.0 mg also oligodactylies were induced. The foetal body weight was reduced only by a dose of 6.0 mg CdCl2 administered on the 12th day of pregnancy. Reduction of the thymus weight was a constant effect of treatment with the higher doses of cadmium from the 9th to the 14th day of pregnancy.

Abnormalities, Drug-Induced↗