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PubMed1981

Abnormality of chromosome 16 and its phenotypic expression.

An abnormality of chromosome 16 in which there is extra genetic material present on the short arm (46,XY, 16p+) has been identified. This chromosomal aberration was associated with multiple congenital anomalies, including mid-facial hypoplasia, arthrogryposis, and mental retardation. On the basis of the cytogenetic appearance and the phenotype of the patient, this may represent a partial 16 trisomy. Unlike most abnormalities of chromosome 16, this syndrome was compatible with life.

Abnormalities, Multiple↗
PubMed1986

Determination of cholinesterase and acetylcholinesterase in amniotic fluid. Uses in prenatal diagnosis and quality control.

The determination of acetylcholinesterase (AChE) has been shown to be as specific as alphafetoprotein (AFP) for the prenatal detection of open neural tube defects although AFP remains the method of choice. This paper describes a semi-automated technique for the analysis of acetylcholinesterase in amniotic fluid that: A) reduces the cost of the procedure; B) allows for a larger number of samples to be run at a time; and C) provides for more accurate and reproducible procedures and results. Six fetuses with neural tube defects (2 with gastroschisis and 3 where one twin was dead) were detected and found to have elevated AChE, TChE and 2 bands by electrophoresis. Quality control procedures using both pure enzyme and amniotic fluid with low and high levels of the enzyme are described. The analysis of 340 amniotic fluids of normal pregnancies indicates that the normal value for AChE is 5.17 +/- 2.63 mU/ml (97% confidence interval for the mean 4.84-5.49 mU/ml. A group of 27 abnormal pregnancies provides evidence that fetal vomiting and regurgitation, fetal demise, multiple cysts syndrome, idiopathic IUGR, arthrogryposis multiplex, hydrocephaly (stenosis of aqueductus), trisomy 21, trisomy 18, hydronephrosis, pyloric stenosis, heart malformation, ectopia cordis and multiple gestation produce elevated levels of pseudocholinesterase (PChE) in amniotic fluid. The use of pseudocholinesterase levels in amniotic fluid for prenatal diagnosis is proposed and discussed in view of its elevated levels in abnormal pregnancies where AChE is normal. The normal values for PChE are 23.86 mU/ml (mean) and 5.83 for standard deviation. Electrophoretic analysis was performed on all samples with values higher than one standard deviation above the mean.(ABSTRACT TRUNCATED AT 250 WORDS)

Acetylcholinesterase↗
PubMed1989

Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome).

Five children from three unrelated families were born with symmetrical contractures of the knees, ankles and feet. An initial diagnosis of arthrogryposis multiplex was made, but frequent fracturing occurred after walking commenced and it was then recognised that the children had osteogenesis imperfecta. The pathogenesis of the congenital contractures is unknown, but the symmetry and lack of evidence of prior fracturing is suggestive of articular immobility during early intra-uterine development. The consistency of the anatomical distribution of the contractures, in the setting of a uniform OI phenotype, is suggestive of syndromic identity. A similar case was documented by Alfred Bruck in 1897 and we propose that the eponymous designation "Bruck syndrome" should be applied to the disorder.

Adolescent↗
PubMed1994

Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions.

A patient with myopathy and congenital fiber type disproportion presented at birth with arthrogryposis multiplex congenita, dislocation of the hips and mild scoliosis. Later in life she developed marked muscle weakness. A balanced chromosomal translocation t(10;17) (p11.2;q25), transmitted by the clinically healthy mother, who nevertheless showed discrete signs of myopathy, was demonstrated. DNA analysis excluded maternal uniparental disomy for loci on both chromosomes 10 and 17. We suggest that the translocation breakpoints are candidate regions for a myopathy gene.

Chromosomes, Human, Pair 10↗
PubMed1997

An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins.

Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late-closing fontanelle, telecanthus, downslanting palpebral fissures, posteriorly rotated ears, downturned angles of mouth), arachnodactyly and distal arthrogryposis with severely adducted thumbs and club feet. This striking phenotype has some similarities with the multiple pterygium syndrome (Escobar syndrome), but it most likely represents a distinct condition caused by an autosomal recessive gene defect.

Abnormalities, Multiple↗
PubMed1997

Clinical manifestation of a severe neonatal progeroid syndrome.

A girl with a progeroid appearance, with prominent occiput, blepharophimosis, cataract, arthrogryposis of the upper limbs and severe pulmonary stenosis is described. She died aged less than 6 months. An older sister was born 3 years before with the same appearance and underwent the same fatal evolution. The clinical appearance of this reported patient is compared to the previously published cases with severe neonatal progeroid syndromes.

Cutis Laxa↗
PubMed1990

The central representation area of the radial nerve in the goat, studied by the axon reaction.

The central representation area of the radial nerve has been investigated in the goat, using the axon reaction. The retrograde changes after a two or six weeks survival time have been used to study both its position and architecture. Reconstructions have been made using a computer assisted approach. In the goat the central representation area of the radial nerve is situated in the dorsolateral part of the lateral motoneuronal cell group, extending from caudal C6 to caudal T1. It begins very small in C6, enlarges through C7, reaches its maximal diameter in C8, from where it gradually decreases to end in caudal T1. The contribution of the C6 segment to the central representation area of the radial nerve in the goat is in agreement with findings in some other species but it contrasts with the macroscopic origin of the radial nerve in ruminants. It is suggested that this finding, together with the statistically significant reduction in the number of alpha motoneurons at the C6 level in calves affected with Arthrogryposis Multiplex Congenita (AMC) in the forelimbs, may prove an at least partial involvement of the radial nerve in the pathogenesis of this disease, which is also suggested by clinical symptoms.

Animals↗
PubMed1987

Early fatal nemaline myopathy: case report and review.

A newborn girl with atonia and arthrogryposis multiplex required mechanical ventilation; she died on the 14th day. Postmortem muscle histology disclosed nemaline myopathy with a lack of myofibrils. Peripheral nerves appeared to be normal. The parents are first cousins. The findings for 13 other patients who died from nemaline myopathy within the first year of life are reviewed. It is suggested that early fatal cases, in contrast to patients with the 'benign' childhood form, are homozygotic for the disease gene, and that the myopathy results from abnormal myosin synthesis.

Biopsy↗
PubMed2000

Epidemiological assessment of misoprostol teratogenicity.

OBJECTIVE: To verify if any of the 15 congenital defects already reported in association with misoprostol can be found within an epidemiological registry of congenital defects. DESIGN: Case-control study including case-sick and case-health controls. METHODS: Comparison of misoprostol exposure for each specific defect, using the exposure for the rest of defects as a reference group. POPULATION: Four thousand six hundred seventy-three consecutive newborn infants with malformations of unknown aetiology, in the Latin American Collaborative Study of Congenital Malformation. RESULTS: There was no difference in exposure rate between the malformed (34/4,673) and nonmalformed (23/4,980) newborns. Four of the five more frequently cited defects in the literature were found to be in excess: constriction ring, terminal transverse-limb defects, hydrocephalus, and arthrogryposis. Equinovarus feet had a normal frequency in our study. Thirteen different defects not described in the literature were seen in our misoprostol exposed cases, but only holoprosencephaly and bladder exstrophy significantly exceeded the expected number. CONCLUSIONS: The confirmation from an epidemiological registry of an association for four of the five more commonly observed congenital defects among misoprostol exposed children described in the literature seems indicative of a real teratogenic effect. The defects are of vascular disruption type. However, additional attempts to achieve abortion could not be excluded as a concurrent contribution.

Abnormalities, Drug-Induced↗
PubMed2006

Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism.

When amniocentesis reveals a mosaic karyotype and the baby presents with multiple malformations, an analysis of the baby's peripheral blood typically reveals a mosaic karyotype. We present a boy who was prenatally diagnosed by amniocentesis as having trisomy 9 mosaicisim but who had normal G-banding results on postnatal blood karyotyping; the patient also exhibited multiple malformations, including a diaphragmatic hernia, arthrogryposis, undescended testes, and characteristic facies. Because of the discrepancy between the phenotype and karyotype, we repeated the chromosomal studies on multiple occasions. Interphase FISH performed on abdominal wall muscle tissue revealed a mosaic trisomy 9 karyotype: 47,XY, + 9(159)/46,XY (19). Based on these findings, we finally diagnosed the patient as having trisomy 9 mosaicism and counseled the parents that the risk of recurrence was low. We conclude that it is important to be aware of the possibility that the patient can have a normal postnatal blood karyotype and an abnormal phenotype with multiple malformations when trisomy 9 mosaicism is detected prenatally. When the baby's phenotype is abnormal, karyotyping on multiple tissues is useful for confirming clinical impression as well as determining the prognosis and providing accurate genetic counseling.

Amniocentesis↗
PubMed1975

Perinatal lamb mortality in Western Australia. 7. Congenital defects.

Four hundred and one malformed lambs were examined during a 3-year investigation into the causes of perinatal lamb mortality. Frequence of involvement of the various body systems was: musculo-skeletal 55.4%, digestive 12.7%, cardiovascular 9.7%, uro-genital 7.1%, nervous 6.0%, special senses 3.5%, integument 3.2%, and endocrine 1.5%. A third of the defects (32.9%) involved more than one body system. There was a sex difference of 3 males: 2 females. The common defects in the lambs autopsied in order of frequence were: agnathia, atresia ani, cardiac defects, arthrogryposis, micrognathia, scrotal bifurcation, embryonic duplications, hernias, meningocele, and perosomus elumbis. Agnathia, atresia ani and persistent umbilical haemorrhage appeared to be hereditary. There was no relationship between congenital defects and the time of lambing and phytoestrogens.

Abnormalities, Multiple↗
PubMed1975

Perosomus elumbis in sheep.

Eight lambs affected with perosomus elumbis were examined during a 3-year investigation; one died during birth, six died soon after birth without rising, and one died at two days. Typically, the affected lambs had an infantile pelvis, thinner and smaller femurs, tibias and metatarsal bones, muscular atrophy, arthrogryposis involving most joints of the hindlimbs, and five had tail malformations. Associated malformations were multiple and included atresia ani (5), unilateral renal agenesis (4), cryptorchidism (4), perineal and diaphragmatic hernias (1), synophthalmia (1), high septal defect (1), cerebellar hypoplasis (1), and hydrocephalus (1). Five of the affected lambs were males and three were females. The incidence of 0.18% in 4,417 lambs examined from a large sheep population over a 3-year period suggests that perosomus elumbis is not an uncommon congenital defect of sheep.

Abnormalities, Multiple↗
PubMed2001

Reproductive disease and congenital malformations caused by Menangle virus in pigs.

OBJECTIVE: To describe a new syndrome characterised by embryonic mortalities, stillbirths, mummified foetuses and congenital malformations in a herd of intensively farmed pigs. DESIGN: Field observations, laboratory investigations and examination of breeding records. PROCEDURE: Pathology examinations were performed on mummified and congenitally deformed piglets during an outbreak of reproductive disease at a 2600 sow intensive piggery in New South Wales from April to October 1997. Reproductive performance was monitored during the outbreak and breeding records were examined retrospectively. Serum and tissue samples from pigs were tested for evidence of infection with known porcine pathogens and for a new virus, Menangle virus, isolated from stillborn piglets with deformities from the affected piggery in August 1997. RESULTS: Reproductive disease occurred sequentially in all four breeding units at the affected piggery over a period of 21 weeks. The farrowing percentages in each unit decreased from 80 to 82% before the outbreak to 63 to 78% during the outbreak and the number of live piglets per litter declined from a mean of 9.6 to 9.8 before the outbreak to 7.2 to 8.9 during the outbreak. The proportion of affected litters (litters with less than six liveborn piglets) was highest (64%) in the sixth week of the outbreak. Mummified foetuses, stillborn piglets with arthrogryposis, craniofacial deformities and degeneration of the brain and spinal cord, were observed along with occasional abortions. Sera from sows that produced affected litters contained neutralising antibodies against Menangle virus and there was evidence that this virus had been introduced to the piggery in February 1997. CONCLUSIONS: Reproductive disease in pigs due to Menangle virus was characterised by stillbirths, mummification, embryonic death and infertility, along with abortions, skeletal deformities and degeneration of the brain and spinal cord in affected foetuses and stillborn piglets.

Animals↗
PubMed1984

Teratogenicity of Australian Simbu serogroup and some other Bunyaviridae viruses: the embryonated chicken egg as a model.

The use of embryonated chicken eggs as a model for assessing the teratogenic potential of animal viruses was investigated with 12 members of the Bunyaviridae family. Infection of 4-day-old embryonated chicken eggs via the yolk sac with 10 of the viruses resulted in deaths or congenital deformities that were similar to those observed in Akabane virus infections of fetal ruminants and included arthrogryposis, scoliosis, mandible defects, and retarded development. Statistical analysis showed that the viruses fell into three main groupings, namely, those that caused both death and deformities (Akabane, Aino, Tinaroo, and Belmont viruses), those that mainly caused death (Peaton, Thimiri, and Facey's Paddock viruses), and those that required very high doses to cause either death or deformities (Douglas and CSIR0296 viruses). In addition, two viruses (Kowanyama and Mapputta viruses) caused neither death nor deformities. A difference in the pathogenic potential between two Akabane isolates (B8935 and CSIR016) in the embryonated chicken egg model was found to correlate with differences previously observed in experimentally infected sheep; Akabane CSIR016 was the more pathogenic. It is concluded that the embryonated chicken egg model should also be of value in assessing the teratogenic potential of other Bunyaviridae and attenuated vaccine viruses, although it does not assess the ability of the virus to cross the placenta.

Animals↗
PubMed1981

Multiple pterygium syndrome.

The multiple pterygium syndrome is a rare autosomal recessive condition characterised by arthrogryposis multiplex congenita, pterygia of the neck, fingers, and antecubital, popliteal, and intercrural areas, growth retardation, and facial, vertebral, and genital anomalies. We present two unrelated patients of 17 and 6 years of age, respectively, affected with this condition. We describe the natural history of their disorder since birth and review the spectrum of phenotypic variation of the multiple pterygium syndrome in 25 published cases.

Adolescent↗
PubMed1979

Urogenital defects in sheep.

The urogenital system was involved in 92 (22.9 per cent) of 401 malformed lambs examined over a three year period; genital 69 (six males: one female) and urinary 23 (three males: one female). Ten lambs had both genital and urinary defects. Sixty-eight (73.0 per cent) of the 92 lambs had defects of other organs, the most common being atresia ani, various skeletal and central nervous system defects, and arthrogryposis. The most common external defect of the male genital system was partial to complete cleft of the scrotum and the most common internal defect was cryptorchidism (six unilateral and 12 bilateral). Both penile agenesis and diphallia were observed twice. Defects of the female genital system included two uterine agenesis, four atresia vaginam, and one freemartin. Male pseudohermaphroditism was found in three lambs. The most common external urinary defect was male hypospadias and the most common internal defect was renal agenesis (12 unilateral and one bilateral). Other urinary defects were hydronephrosis (two unilateral and two bilateral), cystic kidneys (four unilateral and two bilateral), one bilateral polycystic kidneys, one patent urachus and six dysgenic kidneys.

Animals↗
PubMed1982

Bluetongue in western Turkey.

In October 1977 clinical bluetongue broke out in Aydin province, western Turkey and spread to adjacent provinces in the autumn months of 1978 and 1979. The outbreak was caused by a virus of serotype 4 and appeared to occur in a totally susceptible population. It was eventually controlled by widespread use of attenuated type-specific vaccine. Bluetongue virus was isolated from sheep on several occasions and also from a calf with congenital arthrogryposis and hydranencephaly. This latter finding is discussed in relation to Akabane virus, a recognised arbovirus teratogen thought to be present in the same area at the same time.

Animals↗