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This report concerns three different manifestations of congenital muscular aplasia/hypoplasia in a mother (aplasia of the left tensor fasciae latae muscle) and her two children (aplasia of the left depressor anguli oris muscle, right hemidiaphragm hypoplasia), indicating autosomal dominant inheritance with variable expression (pleiotropy) as aetiology for the conditions.
BACKGROUND: Recent work suggests that multiple genes and several environmental risk factors influence risk for non-syndromic oral clefts, one of the most common birth defects in humans. Advances in high-throughput genotyping technology now make it possible to test multiple markers in many candidate genes simultaneously. METHODS: We present findings from family based association tests of single nucleotide polymorphism (SNP) markers in 64 candidate genes genotyped using the BeadArray approach in 58 case-parent trios from Maryland (USA) to illustrate how multiple markers in multiple genes can be analysed. To assess whether these genes were expressed in human craniofacial structures relevant to palate and lip development, we also analysed data from the Craniofacial and Oral Gene Expression Network (COGENE) consortium, and searched public databases for expression profiles of these genes. RESULTS: Thirteen candidate genes showed significant evidence of linkage in the presence of disequilibrium, and ten of these were found to be expressed in relevant embryonic tissues: SP100, MLPH, HDAC4, LEF1, C6orf105, CD44, ALX4, ZNF202, CRHR1, and MAPT. Three other genes showing statistical evidence (ADH1C, SCN3B, and IMP5) were not expressed in the embryonic tissues examined here. CONCLUSIONS: This approach demonstrates how statistical evidence on large numbers of SNP markers typed in case-parent trios can be combined with expression data to identify candidate genes for complex disorders. Many of the genes reported here have not been previously studied as candidates for oral clefts and warrant further investigation.
OBJECTIVES: To investigate the relations between congenital malformations and maternal occupation during pregnancy with a registry based case-control study. METHODS: Analysis was performed on data derived from the Florence Eurocat registry surveillance programme. The study included cases with isolated conditions, including chromosomal anomalies (n = 1351), cases with multiple anomalies registered during the 1980-91 period (n = 440), and babies with no congenital malformations recognised at birth who were born from 1982 to 1989 and selected as controls (n = 3223). 11 categories were defined, 10 including cases with isolated malformations and one for cases with multiple congenital anomalies. Four categories of maternal occupation were selected for the study. Odds ratio (OR) values were adjusted for maternal origin, maternal and paternal education, number of previous live births, illness during pregnancy, and maternal age when the group of chromosomal anomalies was analysed. RESULTS: A notable and significant association between oral clefts and mothers involved in leather and shoe manufacturing was found (adjusted OR 3.9; 99% confidence interval (99% CI) 1.5 to 9.8) and the risk consistently increased when considering cases with isolated cleft palate separately (OR 5.4; 95% CI 1.8 to 13.4). Moreover, a significant risk was identified for the association between multiple anomalies and textile dye workers (adjusted OR 1.9; 99% CI 1.0 to 3.8). CONCLUSIONS: This study indicates a notable, significant relation between maternal occupation as a pelt or leather worker and orofacial clefts in offspring. This finding is in agreement with the suggested inheritance models. The dilution effect due to studying large and heterogeneous groups of workers and occupations limits the value of the study; but it provides a good example of the use of a large database to search for teratogenic risk with the aid of malformation registries.
This article discusses the imaging and clinical features of patients with facial clefts. Patients with facial clefts are classified according to interocular distance. Typing of facial clefts is emphasized to determine which patients need to undergo not only imaging, but also imaging of the brain, to assess associated intracranial anomalies. The genetics, treatment, and implications that these clefting disorders have on the growth of the face are also discussed.
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Facial malformations are embryonic morphological accidents involving the prosencephalic frontonasal process (facial cleft), the branchial arches (laterofacial malformations) or the rhombencephalic process. Knowing the future development of these clusters of cells helps in the search for neurological brain abnormalities associated with facial cleft and the respiratory, cardiac, gastrointestinal and brainstem malformations associated with laterofacial malformations and Pierre Robin syndrome. Taking care of the newborn already in the maternity unit prevents the consequences of vital distress and enables the child to be placed under conditions of normal psychomotor development.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
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A fused, double-faced (diprosopus), anencephalic monster was born prematurely as one of twins after 30 weeks of gestation. We will describe the autopsy findings and summarize the literature concerning the diprosopus defect. Factors other than fetal environment may contribute to its pathogenesis.
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BACKGROUND: Midline facial clefts are rare deformities with a wide range of clinical findings from a simple midline vermillion notch to major skeletal malformations, including orbital hypertelorism. The bifid nose is a relatively uncommon malformation that is frequently associated with hypertelorbitism and midline clefts of the lip. The presentation of a bifid nose ranges from a minimally noticeable midline nasal tip central groove to a complete clefting of the osteocartilaginous framework, resulting in 2 complete half noses. We describe our experience with 2 patients with midface clefts who presented with bifid noses and a variety of other congenital abnormalities. The anatomy, extensive treatment, and complications of the bifid nose are discussed. DESIGN: Retrospective case review and literature review. RESULTS: Successful creation of an aesthetic nasal contour and normal nasal function was achieved without complication via extensive skin, bony, and cartilaginous resection. CONCLUSIONS: The bifid nose challenges the rhinoplasty surgeon. A successful outcome is dependent on a thorough understanding of the bifid nasal anatomy, proper patient evaluation, careful preoperative planning, and meticulous surgical technique.
A population based Congenital Malformations Registry has been established in the Emilia Romagna region of northern Italy. From the 1st of January 1978 to the end of 1984, 103,484 births were monitored, and 1914 babies with one or more congenital abnormalities were registered producing a rate of 1.85 per cent. The total number of malformations registered was 2,412 (2.3%). The rates of selected groups of malformations (isolated and in association with other defects) are presented and compared with rates derived from the EUROCAT study.
The Wagner's vitreoretinal degeneration is a condition characterized by myopia, cataract, optically empty vitreous cavity and retinal breaks leading to retinal detachments with poor surgical prognosis. Several extraocular manifestations were reported to be associated with these eye findings and various syndromes were delineated describing sensorineural deafness, orofacial anomalies and skeletal dysplasias. There is enough evidence to suggest that this condition results from a phenotypic variability of genic origin, transmitted as an irregular autosomal dominant trait. In the absence of knowledge about the primary gene defect, the problems in nosology emphasize the difficulty in distinguishing genetic heterogeneity from variable gene expression. In view of the great deal of similarity between all these syndromes with vitreoretinal degeneration it is suggested that all these entities represent the extremes of the same disease spectrum forming parts of a continuum.
Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, and developmental delay. After detection of a microdeletion by array-based comparative genomic hybridization, we identified biallelic truncating mutations in the beta 1,3-galactosyltransferase-like gene (B3GALTL) in all 20 tested patients, showing that Peters Plus is a monogenic, primarily single-mutation syndrome. This finding is expected to put Peters Plus syndrome on the growing list of congenital malformation syndromes caused by glycosylation defects.
BACKGROUND: Intracytoplasmic sperm injection (ICSI) is a method of assisted reproductive technology that involves the selection of a single sperm cell and the manual injection of this cell into the egg. The lack of relevant experimental studies, the nature of the technology involving non-natural selection of the fertilizing sperm, and possible damage to the egg have caused concern that ICSI could increase the risk of birth defects. Data from available cohort studies comparing ICSI with standard in vitro fertilization (IVF) should be combined to evaluate the risks involved with ICSI. METHODS: We reviewed more than 2500 titles and abstracts containing keywords related to ICSI and identified 22 scientific articles with data on birth defects among ICSI-births. A total of four peer-reviewed, non-overlapping prospective cohort studies provided reliable and comparable data on birth defects both for children conceived by ICSI and children conceived by standard IVF. These studies included a total of 5395 children born after ICSI. RESULTS: The pooled estimate of the risk of a major birth defect was a 1.12-fold increase after ICSI when compared with standard IVF (risk ratio = 1.12, 95% confidence interval (CI): 0.97-1.28, P = 0.12). There was no marked heterogeneity of risk ratios between these studies (P = 0.10). We found no significantly increased risks after ICSI for any of the categories cardiovascular defects, musculoskeletal defects, hypospadias, neural tube defects, or oral clefts. CONCLUSIONS: Our analysis does not indicate that the ICSI-procedure represents significant additional risks of major birth defects in addition to the risk involved in standard IVF. The data was limited, particularly on risks of specific categories of defects.