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Craniorachischisis in conjoined "diprosopus" twins. Case report and review of the literature
Abstract
The pathological features in a case of craniorachischisis with incomplete twinning (diprosopus) are reported. The female fetus was born to a 27-year-old gravida 6, para 3 healthy woman who underwent a medical abortion at 13 week's gestation because of an anencephaly revealed by ultrasound examination. The head showed two fused faces with two mouths, two noses, two lateral completely formed eyes and two medially fused eyes covered by cutaneous tissue. X-ray examination demonstrated the symmetrically doubled spinal column. The brain and the spinal cord were absent (craniorachischisis). The larynx and the oesophagus, the other viscera and the limbs were normal in number, location and morphology as for a female singleton. This case with others from the literature, illustrates the relationship between conjoined twinning, neural tube defects (more particularly anencephaly) and female zygote and constitutes a real entity.
... 15 Effects of genetic and association with some malformatives syndromes including craniorachischisis were reported: case with trisomy 18, pentalogy of Cantrell, Fryns syndrome, sirenomelia, diprosopus twin. 2,10,16,17 Possibility of association with internal malformation was not known in our case, nor genetic anomaly. ...
Craniorachischisis is the most severe type of neural tube defect in which almost the entire brain and spinal cord remain open. We report a case in a female fetus born at gestational week 38, with both anencephaly and open spina bifida. It was the second pregnancy of a 26-year-old woman. The first pregnancy had to be interrupted by a medical termination at 18th gestational week because of an anencephaly. We aim to report the first case documented in Madagascar.
... Factors mentioned above are similar to the ones, which affect monozygotic twin pregnancy [13]. The hypothesis suggests that decrease of oxidation process affects the fetal environment just before gastrulation [14] leading to embryonic disturbance and abnormal splitting of embryo between 15-25 day post-implantation [15]. ...
Craniofacial duplication is a twin pregnancy defect; particularly in monozygotic, monochorionic and monoamniotic pregnancies. Of all twin pregnancy complications, the least frequent is a fetus with craniofacial duplication (diprosopus). In this article we report a case with this condition, and we review the literature on this rarest of human malformations.
... Factors mentioned above are similar to the ones, which affect monozygotic twin pregnancy [13]. The hypothesis suggests that decrease of oxidation process affects the fetal environment just before gastrulation [14] leading to embryonic disturbance and abnormal splitting of embryo between 15-25 day post-implantation [15]. ...
... Factors mentioned above are similar to the ones, which affect monozygotic twin pregnancy [13]. The hypothesis suggests that decrease of oxidation process affects the fetal environment just before gastrulation [14] leading to embryonic disturbance and abnormal splitting of embryo between 15-25 day post-implantation [15]. ...
Abstract
Craniofacial duplication is a twin pregnancy defect; particularly in monozygotic, monochorionic and monoamniotic
pregnancies. Of all twin pregnancy complications, the least frequent is a fetus with craniofacial duplication (diprosopus).
In this article we report a case with this condition, and we review the literature on this rarest of human
malformations.
... Surveillance has revealed a large number of craniorachischisis cases. Several researchers have published case reports of one or two cases of craniorachischisis (Carles et al., 1989;Papini et al., 1990;Rodriguez and Palacios, 1992;Van Allen et al., 1993;Sherer et al., 1993;Grange et al., 1994). A German study by Dziallas (1968) dysmorphology of 52 fetuses, but does not report the time period nor describe the demographic characteristics of the source population. ...
The most severe neural tube defect (NTD), craniorachischisis, is characterized by anencephaly confluent with spina bifida open from the cervical to the lumbar region. We describe the prevalence of craniorachischisis among the Texas-Mexico border population during the period 1993-1999.
An active surveillance system identified all clinically apparent NTD-affected fetuses and infants born to mothers residing and delivering in any of the 14 Texas-Mexico border counties. Craniorachischisis cases included live-born, stillborn, and therapeutic abortions.
A total of 16 craniorachischisis cases were identified for a total prevalence of 0.51 per 10,000 live births (Mexican American prevalence, 0.52 per 10,000) and a prevalence of 0.28 per 10,000 live births for cases of 20 weeks gestation or greater.
The prevalence of craniorachischisis was higher than that reported in Atlanta (0.1 per 10,000 live births), but much lower than that reported in Northern China (10.7 per 10,000 births). In this high NTD prevalence region, it is possible that a multiplicity of risk factors, mostly related to poverty, contribute to a high prevalence of craniorachischisis.
To discuss a fetus with craniorachischisis diagnosed antenatally and to review the literature.
Case report.
Craniorachischisis was detected on ultrasound scan in a fetus at gestational week 13. Pregnancy was terminated and diagnosis was verified postnatally.
Craniorachischisis is a rare and severe form of neural tube defects (NTDs). The majority of currently known cases of mouse craniorachischisis have been found to result from disturbance of a single molecular signaling cascade, called planar cell polarity pathway (PCP). The mutant genes that have been causative in disturbance of PCP in mouse models have been examined in human malformations but none of them have so far been implicated in human craniorachischisis. To date, no other genes except the gene encoding 5,10-methylenetetrahydrofolate reductase have been specifically implicated in predisposition to NTDs. We suggest that other PCP genes should be considered as candidates for a role in the etiology of human NTDs. Further investigations are therefore necessary.
We report a case of diprosopus presenting with increased nuchal translucency of 5.3 mm at 14 weeks of gestation. Ultrasonographically, the fetus presented with micrognathia, anterior indentation of the cephalic pole, abnormal cerebral hemispheres with a cystic 4th ventricle and angulation of the spine. The fetal karyotype was normal (46, XX). Following termination of pregnancy, postmortem examination established the diagnosis of diprosopus tetraophthalmus with facial cleft of the 2 faces. Copyright (C) 2004 S. Karger AG, Basel.
A still-born male fetus from the 19th century, fixed in formalin and presenting as diprosopia triophthalmica, was analysed by helical computer tomography and virtually reconstructed without damage. This rare, incomplete, symmetrical duplication of the face on a single head with three eyes, two noses and two mouths develops in the first 3 weeks of gestation and is a subset of the category of conjoined twins with unknown underlying etiology. Spiral computer tomography of fixed tissue demonstrated in the more than 100 year old specimen that virtual reconstruction can be performed in nearly the same way as in patients (contrast medium application not possible). The radiological reconstruction of the Munich fetus, here confined to head and neck data, is the basis for comparison with a number of imaging procedures of the last 3000 years. Starting with some Neolithic Mesoamerican ceramics, the "Pretty Ladies of Tlatilco", diprosopia triophthalmica was also depicted on engravings of the 16th and 17th century A.D. by artists as well as by the anatomist Soemmering and his engraver Berndt in the 18th century. Our modern spiral computer tomography confirms the ability of our ancestors to depict diprosopia triophthalmica in paintings and sculptures with a high level of natural precision.
A case of diprosopus twinning which is rare conjoined twinning is reported prenatally at 22 weeks' gestation. 2D ultrasound examinations showed duplication of the craniofacial structures with four hemispheres, two cerebella and two thalami. There were three orbits two external ears, two noses, fused adjacent maxilla and two oral cavities with two fused oral opening and two jaws. The woman did not consent to any further investigations and the pregnancy was terminated. The postmortem examination confirmed the diagnosis in a male fetus with a crown-rump length of 155 mm, weighing 450 g. The body appeared normal except for a small poorly formed rudiment of a supernumerary digit next to the thumb of the right hand. The ultrasound examination and postmortem finding of this case is described with a short review of the literature.
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