Cases reported "Diseases In Twins"

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1/1917. Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family.

    Four Fanconi anaemia group A (FAA) patients within two related consanguineous families are presented: the propositus (male, 13 years, transplanted at age 10), and his three cousins (one male, 8 years, and two female newborns). Assignment of the patients to FAA was based on the functional complementation analysis by somatic cell hybridization and confirmed by mutation screening showing a homozygous deletion of exon 43 (4267-4404del) in the FAA gene to be present in all four patients. The newborn patients had been diagnosed prenatally by dna analysis. In spite of identical molecular pathology and close familial relationship the clinical phenotypes of the four patients were not concordant. Discordant symptoms included birthweight, pigmentation abnormalities, skeletal, renal and genital abnormalities, whereas microcephaly and possibly the haematological course were concordant. Differences in environmental conditions and/or genetic make-up along with chance effects during development may explain discordant phenotypes despite identical molecular pathology in these patients. However, our results do not rule out the possibility that the exon 43del mutation may have prognostic value for the haematological course of the disease. ( info)

2/1917. twins with different temporal lobe malformations: schizencephaly and arachnoid cyst.

    The etiology and relationships between different forms of malformations of cortical development are poorly understood. Schizencephaly is generally regarded as unrelated to arachnoid cysts. As part of a systematic study of epilepsy in twins we observed a monozygotic twin pair discordant for temporal lobe epilepsy where the twin with epilepsy had unilateral temporal schizencephaly and periventricular heterotopia. The twin without epilepsy had an arachnoid cyst in the same temporal lobe. Although an incidental association is possible, this observation, together with occasional reports of schizencephaly and arachnoid cysts within one individual, suggests a shared pathogenic mechanism. Schizencephaly can be caused by both genetic and acquired factors. We propose that our observations in this twin pair are best explained by a genetic factor present in both twins, with an additional environmental insult resulting in schizencephaly in only one of the pair. ( info)

3/1917. Discordance for Cornelia de lange syndrome in twins.

    A male infant, the first-born of twins, with features of Cornealia de lange syndrome is described. His normal twin was discordnat for 3 of the 14 blood loci tested. chromosomes from the affected infant appeared normal. Though the aetiological basis for the Cornealia de lange syndrome remains obscure, most authorities accept genetic rather than environmental causation. The present findings of discordance for Cornelia de lange syndrome in twins support this view but do not clarify the mode of inheritance. ( info)

4/1917. 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)

5/1917. Identical twins treated differently.

    This case study is intended to demonstrate the effects of two different orthodontic treatment methods on one set of identical twins. ( info)

6/1917. 'Identical' twins with discordant karyotypes.

    A chromosomal abnormality in one of the fetuses of a monozygotic twin pregnancy is a rare phenomenon. In the prenatal unit of our cytogenetics laboratory we have recently come across two such heterokaryotypic twin pregnancies. In both cases ultrasound abnormalities were detected in one fetus of each twin pair. Chromosomal analysis showed that one twin pregnancy was discordant for trisomy 21 and the other for 45,X. Ultrasonographic examination suggested a monochorionic twin pregnancy in each case and dna studies confirmed that both sets of twins were monozygotic. Both pregnancies were terminated. Biopsies taken from different sites of the placentas showed chromosomal mosaicism in both cases. There was no clear correlation between the karyotype found close to the site of the umbilical cord insertion in the placenta and the karyotype of the fetus. Sampling of amniotic fluid from both sacs is recommended in diamniotic twin pregnancies if one (or both) of the fetuses has ultrasound abnormalities, even if the twins are apparently monochorionic. ( info)

7/1917. Bilateral fibromuscular dysplasia in identical twins.

    fibromuscular dysplasia is an arterial occlusive disorder that often affects the renal arteries and leads to renovascular hypertension. The cause of this disease is unknown. However, the occurrence in siblings suggests that genetic factors may play a role. We describe two cases involving hypertensive identical twins with fibromuscular dysplasia of the renal arteries. This unique clinical case reinforces a possible hereditary nature of this arterial occlusive disorder. ( info)

8/1917. diagnosis of twin reversed arterial perfusion sequence in the first trimester by transvaginal color Doppler ultrasound.

    A case of twin reversed arterial perfusion (TRAP) sequence was diagnosed at 12 weeks' gestation using transvaginal color Doppler ultrasound, which demonstrated the presence of retrograde perfusion in the umbilical artery of the abnormal twin. Ultrasound imaging showed a monochorionic-diamniotic twin pregnancy with an inappropriately grown second twin, the morphological evaluation of which revealed an abnormal cephalic pole with acrania, diffuse subcutaneous edema and the presence of cardiac activity in an abnormal heart with a single chamber. ( info)

9/1917. Iatrogenic monoamniotic twin gestation with progressive twin-twin transfusion syndrome.

    OBJECTIVE: Intentional puncture of the membrane has been reported to be a promising new method for the management of twin-twin transfusion syndrome. CASE REPORT: Treatment of twin-twin transfusion syndrome with serial amniocenteses resulted in unintentional puncture of the dividing membrane at 24 weeks of gestation. Fetal growth discordance increased, and twin-twin transfusion did not improve following the puncture. Intrauterine death of both fetuses at 27 weeks of gestation occurred. CONCLUSION: Amniotic septostomy for the treatment of twin-twin transfusion syndrome should be performed with serious consideration. ( info)

10/1917. Diagnostic utility of metabolic exercise testing in a patient with cardiovascular disease.

    Disproportionate exercise limitation in patients with cardiovascular disease is a common problem faced by clinical cardiologists and other physicians. Symptoms may be attributed to psychological factors or hypothetical pathophysiological mechanisms that are difficult to confirm clinically. This case report describes how the use of metabolic exercise testing in a 28 year old woman with morphologically and haemodynamically mild hypertrophic cardiomyopathy and severe exercise limitation led to the diagnosis of an alternative cause for the patient's symptoms, namely a primary disturbance of the mitochondrial respiratory chain probably caused by a nuclear encoded gene defect. ( info)
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