Cases reported "Anencephaly"

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1/179. 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. ( info)

2/179. Etiology and management of monoamniotic twin discordant for anencephaly.

    A case of monoamniotic monochorionic (MAMC) female twins, with one twin being anencephalic, and the co-twin being normal, is reported. Twin to twin transfusion syndrome was also noted. The reasons for anencephaly in association with monozygotic (MZ) twinning are discussed. The management of such a case is presented. ( info)

3/179. trisomy 18 with total cranio-rachischisis and thoraco-abdominoschisis.

    We describe a further case of trisomy 18 with total cranio-rachischisis and radial agenesis, and report the first case with thoraco-abdominoschisis. We review these rare findings in trisomy 18. ( info)

4/179. Pharyngeal pituitary: development, malformation, and tumorigenesis.

    The development of the pharyngeal pituitary (PhP) in the fetal period was morphologically and, for the first time, immunohistochemically examined. PhP, found in every individual, begins its hormone production at the 17-18th week of gestation, that is, 4-8 weeks later than that of sellar pituitary (SP). Only 1 of 25 examined fetuses without any stigmata of developmental anomalies showed a residual pituitary fragment in the craniopharyngeal canal (craniopharyngeal pituitary, CPhP). An adult case of a rare clivus pituitary adenoma that we examined is demonstrated in discussing its relationship to PhP. Extracranial ectopic pituitary adenomas in the literature describe an exclusively sphenoid sinus/nasopharyngeal/clivus location of the tumor. Their location corresponded exactly with that of PhP, so that the origin of the tumors can be reasonably speculated as PhP, although another origin, e.g., CPhP, can not be excluded. A variety of malformations of PhP, although very rare, have been described for the fist time during the systemic examination of 16 fetuses with different cranioneural malformations, such as agenesis, unseparated PhP from SP (pharyngosellar pituitary), fragmentation, and residual pituitary tissue in the open craniopharyngeal canal. However, developmental anomaly of PhP was not specifically associated with cranioneural malformations except in cases of chromosomal aberrations. The hormone production in PhP in malformation cases tended to be retarded. Absence of SP was recorded in 50% of anencephalics in the literature; however, PhP was identified in all anencephalics in our series, independent of the existence of SP. This supports the opinion that agenesis of SP in anencephalics seems to be false information. ( info)

5/179. trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly.

    We report on a male fetus with partial trisomy 2p21-2pter and monosomy 15q26-15qter due to t(2,15)(p21;q26). This fetus had a typical trisomy 2p phenotype including minor facial anomalies, musculoskeletal defects and two unusual findings: polydactyly and anencephaly. The observation of anencephaly adds support to the theory that genetic material mapping to chromosome band 2p24 is involved in neural tube development. In addition, we propose that a gene on 2p23 may play a role in the morphogenetic patterning of hands and feet. ( info)

6/179. 3D-reconstruction of craniofacial structures of a human anencephalic fetus. Case report.

    It was the purpose of this study to investigate the craniofacial bones, cartilages and major blood vessels of a human anencephalic fetus and to describe the malformations of these structures accompanying this developmental disruption. The head of a 16 week old human fetus with anencephaly was serially sectioned and the craniofacial bones, cartilages and major blood vessels were traced and reconstructed by 3D-computer technology. The sphenoidal, temporal and occipital bones showed severe malformations, whereas the bones of the facial cranium were normally developed. Both internal carotid arteries ended within the cerebro-vascular area with no further branches. The vertebral arteries also ended within the cerebro-vascular area. No arterial circle of willis was developed. The notochord terminated normally in the sphenoid body. The observations indicate that the possible reason for this malformation was non-closure of the anterior neuropore of the neural tube. The normal termination of the notochord suggests that it had no influence on the pathogenesis of this malformation. The malformations of the temporal and occipital bones are contradictory to the hypothesis of Marin-Padilla (1991) that anencephaly is caused by a maldevelopment of the sphenoidal bone. ( info)

7/179. prenatal diagnosis of mosaic ring chromosome 13 with anencephaly.

    We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a second-trimester fetus with mosaic ring chromosome 13 and anencephaly. A 35-year-old, gravida 3, para 2 woman was referred for genetic counselling at 23 weeks' gestation because of an elevated maternal serum alpha-fetoprotein level of 2.386 multiples of the median. Prenatal ultrasonography showed intrauterine growth retardation and anencephaly. amniocentesis revealed a karyotype of de novo mos 46,xx,r(13)(p11q32)/45,xx,-r(13) [corrected] (77%/23%). Molecular genetic analysis by quantitative fluorescent polymerase chain reaction (PCR) with small tandem repeat markers specific for chromosome 13 rapidly confirmed the maternal origin of the aberrant chromosome and determined the breakpoint at 13q32 between D13S225 (present) and D13S147 (absent). Our present finding indicates that anencephaly can be due to mosaic r(13) with a terminal deletion of 13q32-13q34 and an additional secondary rearrangement of loss of r(13). We propose that cytogenetic analysis is beneficial and warranted in pregnancies with fetal neural tube defects. ( info)

8/179. Management of a triplet pregnancy with two anencephalic fetuses and polyhydramnios.

    The occurrence of a triplet pregnancy discordant for anencephaly is rare and its management presents a clinical dilemma. We report what appears to be the first case of a triplet pregnancy with two anencephalic fetuses complicated by premature contractions and severe polyhydramnios. Its management, which results a healthy newborn weighing 1385 g is discussed. ( info)

9/179. Ocular findings in anencephaly.

    We found an upper eyelid notch and posterior pole lens in a newborn anencephalic infant. An analysis of the development of the affected tissues helped localize the insult at the fifth to tenth week of gestation, probably close to the fifth week. ( info)

10/179. amniotic fluid embolism and isolated coagulopathy: atypical presentation of amniotic fluid embolism.

    A 41-year-old multigravida presented at 32 weeks of gestation with polyhydramnios and an anencephalic fetus. Abnormal bleeding as a result of disseminated intravascular coagulation complicated an emergency Caesarean section for severe abdominal pain thought to be due to uterine rupture. Massive transfusion with blood products was necessary and the abdomen packed to control bleeding. The patient was transferred to the intensive care unit where she made a slow but complete recovery. amniotic fluid embolism with atypical presentation of isolated coagulopathy is the likely diagnosis in this case. The case serves to demonstrate that amniotic fluid embolism may present with symptoms and signs other than the classical pattern of dyspnoea, cyanosis and hypotension. ( info)
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