1/52. Diprosopus (partially duplicated head) associated with anencephaly: a case report.Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
2/52. ectodermal dysplasia with hypodontia in a set of Nigerian twins--a case report.A set of Nigerian male twins with features of ectodermal dysplasia born to apparently normal parents are presented. The main findings in both children were hypodontia, abnormally shaped teeth and hypotrichosis. The general treatment modalities of the condition, especially in a tropical environment, are discussed.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
3/52. Limb-body wall complex: a case series.OBJECTIVE: Limb-body wall complex (LBWC) is a rare fetal polymalformation of uncertain etiology, but it has been regarded as sporadic in nature with a low recurrence risk. We review a case series in light of recent evidence about possible genetic and environmental associations. methods: All abortions or births coded as limb-body wall defect or fetal acrania/exencephaly or with unclassified polymalformation between January 1996 and January 2001 were audited. RESULTS: During the 5-year period there were 33,286 live births in our region. Eleven cases met the criteria of LBWC giving an incidence of 0.33/1000 live births. In 50%, 50% and 30% of women a history of cigarette, alcohol and marijuana use, respectively, was noted. Furthermore, 40% of the women had a history of a previous infant with a congenital anomaly. One patient delivered two consecutive male infants with LBWC. CONCLUSIONS: Whilst the majority of cases of LBWC are sporadic, some women may have an underlying genetic predisposition. It may be prudent to advise against the use of alcohol, cigarettes and other drugs and to offer an ultrasound scan in a tertiary referral center in a subsequent pregnancy.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
4/52. tetralogy of fallot, imperforate anus, and Mullerian, renal, and cervical spine (MURCS) anomalies in a 15-year-old girl.STUDY OBJECTIVE: To examine the etiology of MURCs anomalies and the management of a patient with these anomalies as well as cardiac and anorectal abnormalities causing primary amenorrhea and abdominal pain. DESIGN: Case study. RESULT: Relief of pelvic pain following GnRH agonist therapy and continuous oral contraceptives. CONCLUSION: MURCS (Mullerian, Renal, Cervical spine) is a well-described grouping of multi-organ, nonlethal abnormalities that are infrequently detected in women with menstrual abnormalities. The association of MURCS with cardiac and anorectal abnormalities may be one of coincidence or may indicate that the abnormalities share common genetic or environmental (cellular or microbiologic) etiologies.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
5/52. Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features.The regions near telomeres of human chromosomes are gene rich. Chromosome subtelomere rearrangements occur with a frequency of 7-10% in children with mild-to-moderate mental retardation (MR) and approximately 50% of cases are familial. Clinical investigation of subtelomere rearrangements is now prompted by fluorescence in situ hybridization (FISH) analysis using specific dna probes from all relevant chromosome ends. In our study, 40 children were selected for subtelomere assay using either the Chromophore Multiprobe-T Cytocell device or the VYSIS TelVision probes. Inclusion criteria were: developmental delay or MR; a normal 550 G-band karyotype; FRAXA negative; and at least one other clinical criterion. Exclusion criteria included an identified genetic or environmental diagnosis. Of the 40 patients analysed, four (10%) were found to have subtelomere rearrangements. Three of 40 (7.5%) were found to have an unbalanced subtelomere rearrangement and one of 40 (2.5%) was found to have an apparently normal variant subtelomere deletion. The first of the three with an unbalanced karyotype was the result of a familial translocation, the second was a de novo finding, and the origin of the third could not be determined. The subtelomere FISH assay detected almost twice the frequency of unbalanced karyotypes as those detected by 550 G-banding in our cytogenetics laboratory (4.7%). In addition, subtelomere screening was eight times more likely than fragile X screening in our DNA laboratory (1%) to detect genetic abnormalities in mentally handicapped individuals. Our findings support the view that screening for subtelomere rearrangements has a greater positive yield than other commonly used genetic investigations and, if cost and resources permit, should be the next diagnostic test of choice in a child with unexplained MR/dysmorphisms and a normal 550 G-band karyotype.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
6/52. Fetal alcohol syndrome in developmental age. Neuropsychiatric aspects.Alcohol constitutes one of the main risk factors for the health of the newborn infant and is also one of the leading causes of cognitive deficit. The distinctive pattern of abnormalities that characterizes fetal alcohol syndrome (FAS) includes: pre- and postnatal growth retardation, cognitive deficit, behavior and language disorders, cerebral malformations (schizencephaly, polymicrogyria, agenesis of the corpus callosum), facial changes (short palpebral fissures, low nasal bridge, anomalies of the auricle, maxillary hypoplasia, cleft lip and palate) and organ anomalies (heart defects, renal and skeletal malformations). As occurs with any teratogenic agent, the variability of phenotypic expression is wide and depends on dose, gestational stage, duration of exposure, maternal and fetal metabolism and other environmental and genetic factors. This study describes 6 subjects with FAS who express various characteristics of the clinical spectrum of the syndrome.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
7/52. Long-term follow-up of three individuals with Kabuki syndrome.Long-term follow-up of three individuals with Kabuki syndrome indicates their phenotype becomes less striking as adults. It is characterized by short stature, obesity, and relatively large head. Long palpebral fissures persist, as does mild to moderate mental retardation. Independent daily living skills are achieved but a sheltered living environment is needed.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
8/52. trisomy 18 in monozygotic twins with discordant phenotypes.The incidence of trisomy 18 in monozygotic twins is approximately 1 per million. We report a pair of liveborn monozygotic twins with trisomy 18. Both twins had esophageal atresia with tracheoesophageal fistula (type C) and intrauterine growth retardation. Twin A had cleft lip, choanal atresia and perimembranous ventricular septal defect. Twin B had hypoplastic left heart syndrome. The twins died without aggressive intervention at the age of 2 months and 52 hours, respectively. These 2 babies had significantly discordant phenotypes, which suggests an epigenetic or environmental effect. Bioethical considerations remain important in the care of babies with multiple congenital anomalies.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
9/52. Cyclopia.A deformity consisting of a single orbital fossa with absent globes with proboscis like structure on forehead is described in a 1200 gram female neonate who died immediately after birth. This neonate was born to a 35 years old Para VIII mother at term. Observations from clinical and post mortem examination are presented and literature review made. Because of its rare occurrence and tentative evidence for both genetic and environmental etiologies, reporting of cases of Cyclopia is encouraged.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
10/52. Clinical variability in a noonan syndrome family with a new PTPN11 gene mutation.noonan syndrome (NS) is an autosomal dominant disorder comprising short stature, facial dysmorphism, short and/or webbed neck, heart defects, and cryptorchidism in males. The gene responsible for the disorder (PTPN11) was recently identified, and explains 30-50% of the cases clinically diagnosed as NS. Cardiofaciocutaneous (CFC) syndrome, a similar but distinct entity, is characterized by relative macrocephaly, characteristic facial appearance, ectodermal abnormalities (sparse and friable hair, sparse eyebrows, hyperkeratotic skin), congenital heart defects, and growth and mental retardation. We describe on a young woman who presents clinical features of NS (short stature, triangular facies, with downslanting palpebral fissures and apparent hypertelorism, webbed neck, pulmonary stenosis, bleeding diathesis, prominent corneal nerves), but with a more prominent ectodermal involvement (sparse and very coarse hair, sparse eyebrows and eyelashes) and developmental delay/mental retardation, which are characteristic of CFC patients. Sequencing of the PTPN11 gene showed a T411M substitution, not previously described in patients with NS. The same mutation was found in her mother and older sister, not initially considered to be affected by NS, but with very subtle clinical findings compatible with this diagnosis. Molecular dynamic studies indicate that this new mutation, similar to other previously described mutations, favors a more active protein conformation. However, the main disruptive effect is not directly in the catalytic domain, suggesting that the location of this mutation could make the protein more susceptible to gene-gene or gene-environment interactions. Atypical cases of NS should be screened for mutations in the PTPN11 gene and in the case of a positive result, first-degree relatives should also be tested for the specific mutation.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
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