1/36. Prenatal confirmation of periventricular leukomalacia in a surviving monochorionic-diamniotic twin after death of the other fetus: a case report.A 30-year-old woman was found to be carrying monochorionic-diamniotic twins at 7 weeks of gestation. The growth-retarded fetus died at 21 weeks of gestation. At 28 weeks of gestation, periventricular leukomalacia was detected in the brain of the surviving fetus by transvaginal ultrasonography. A female baby presenting with microcephaly was born at 39 weeks of gestation, and CT of the brain showed microcephaly and marked hydrocephalus. At 12 months of age, the surviving infant presented with severe physical growth retardation, and frequent episodes of clonic convulsions.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/36. Acardiac anomaly spectrum.BACKGROUND: Acardiac anomaly spectrum is a rare congenital malformation found in monozygotic twin pregnancy. Besides the absence of heart, the condition is associated with variable grades of developmental disruption. Thus, no two cases are similar. methods: This case report is based on physical examination and autopsy findings. RESULTS: The twin had acardia and partial development of head and face. There was complete absence of upper extremities. CONCLUSIONS: The twin reversed arterial perfusion (TRAP) theory is the most accepted etiology of the disorder. Normally, the cephalic pole is the most severely affected, being most distal to the retrograde perfusion. In acardia, partial development of head, face, and brain is usually associated with the development of the upper extremities. However, in the present case, there was extensive cephalic development in the absence of upper extremity development.- - - - - - - - - - ranking = 2.905746579417keywords = physical examination, physical (Clic here for more details about this article) |
3/36. Effect of liver transplantation in a twin for biliary atresia on physical development and intellectual performance: report of a case.A case of twins, one of whom suffered from biliary atresia, is described herein. Although the patient had been doing well until 11 years of age after previously undergoing a primary hepatic portoenterostomy, she had to then undergo a liver transplantation due to severe refractory cholangitis at 14 years of age. Although the patient's intellectual performance had severely declined due to the progression of her illness for several years, it completely recovered after the liver transplantation. In cases where the physical development in childhood has been well preserved, liver transplantation might therefore offer the chance for a full recovery of deteriorated intellectual performance.- - - - - - - - - - ranking = 5keywords = physical (Clic here for more details about this article) |
4/36. Monozygotic twins discordant for vaginal agenesis and bilateral tibial longitudinal deficiency.OBJECTIVE: To report the first case of monozygotic twins with discordant congenital anomalies. DESIGN: Descriptive case report. SETTING: University hospital. PATIENT(S): A 20-year woman with complete vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) and right renal agenesis presented for creation of a neovagina. She had a monozygous twin confirmed by dna testing using short tandem repeat (STR) loci; the twin had normal mullerian/mesonephric development but isolated bilateral tibial longitudinal deficiency. INTERVENTION(S): The complete history, physical, and laboratory data of both the patient and her twin. Also, operative laparoscopy with creation of a neovagina in the patient. MAIN OUTCOME MEASURE(S): diagnosis and appropriate treatment of Mayer-Rokitansky-Kuster-Hauser syndrome and dna testing with STR loci for monozygosity. RESULT(S): The surgical resection of the bilateral uterine remnants, creation of a neovagina in the patient, and the demonstration of monozygosity with her twin with bilateral tibial longitudinal deficiency. CONCLUSION(S): This case report suggests a link between developmental abnormalities of the genital and skeletal system.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/36. goldenhar syndrome and autistic behaviour.Two girls with concomitant goldenhar syndrome (oculo-auriculovertebral spectrum disorder) and autistic disorder are described. One was diagnosed as having goldenhar syndrome in the first few weeks of life and as having autistic disorder in her fifth year; the other was diagnosed as having goldenhar syndrome when she was referred for evaluation of autistic symptoms at seven years of age. The type of physical abnormalities encountered in goldenhar syndrome suggests damage to neural structures in the second or late stages of the first trimester. The two cases described in this report suggest that autistic disorder sometimes can result from neural damage during the second trimester.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/36. Monozygotic twins discordant for huntington disease after 7 years.BACKGROUND: huntington disease (HD) has only rarely been identified in identical twins. All described twins have had disease onset within 1 year of each other, suggesting that disease onset is determined solely by genetic influences. OBJECTIVE: To describe a unique set of monozygotic twins in whom clinical HD onset is at least 7 years apart. DESIGN: A 71-year-old woman was diagnosed as having HD based on medical history, physical examination results consistent with HD, and a CAG trinucleotide repeat number of 39 in the HD gene on chromosome 4. Her onset was 6 years earlier. Her genetically confirmed identical twin, carrying the same number of CAG repeats, was neurologically healthy when examined the next year. Only the HD-manifest twin had chronic bronchitis, rheumatoid arthritis, type 2 diabetes mellitus, and chronic anemia. Both had hypertension. CONCLUSIONS: To our knowledge, this is the first report of monozygotic twins discordant for HD by more than 2 years. The onset of HD symptoms in a patient with 39 triplet repeats at least 7 years earlier than her identical twin suggests the possibility that the disease may be initiated (or delayed) by environmental factors. We have identified increased cigarette use and longer exposure to various industrial toxins as potential explanations for the earlier onset in one twin.- - - - - - - - - - ranking = 2.905746579417keywords = physical examination, physical (Clic here for more details about this article) |
7/36. Synaesthesia: discordant male monozygotic twins.Grapheme-color synaesthesia, a condition in which achromatic graphemes elicit vivid experiences of color is believed to be a genetically determined trait. We describe a study of 10-year-old twin brothers who are physically identical in appearance but who have considerably different conscious experiences. A phenotypic analysis that measured the consistency of grapheme-color pairings over test-retest confirmed that one twin has grapheme-color synaesthesia and the other twin does not. A genotypic analysis using sixteen microsatellite loci confirmed that the twins are monozygotic. These findings are problematic for previous suggestions that synaesthesia is an X-linked dominant trait. At the very least, the findings show that the penetrance of the genotype for synaesthesia is incomplete and that any view suggesting that synaesthesia is simply an X-linked dominant trait is therefore also incomplete and possibly even incorrect. The findings also negate a previous suggestion, based on a study of female monozygotic twins, that discordance of synaesthesia in identical twins is due to X-inactivation. In general, the findings raise serious questions regarding whether it is possible at this time to establish the genetic contribution to synaesthesia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/36. Monozygotic twins discordant for Ullrich-turner syndrome.We describe 9-year-old twin girls who were thought to be monozygotic but who differed greatly in physical appearance and growth pattern. One twin had Ullrich-turner syndrome (UTS), 45,X/46,XX mosaicism in peripheral blood, and only 45,X cells in skin fibroblasts. The phenotypically normal twin also had 45,X/46,XX mosaicism in blood but only 46,XX cells in cultured fibroblasts. Analysis of dna marker patterns in blood lymphocytes and in skin fibroblasts confirmed monozygosity with a probability of 99.97%. This case is compared with other reported cases of discordance for UTS in twins. It is concluded that essentially all of the differences between the two twins can be explained by loss of an x chromosome early in embryogenesis with complete separation of 45,X and 46,XX cell lineages at the time of the twinning event. The presence of mosaicism in the peripheral blood of both twins is presumably due to anastomoses between the placentae resulting in a mixture of the two cell populations in the hematopoietic tissue.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/36. Autism associated with marker chromosome.Six boys who all showed the combination of moderate-severe mental retardation, autistic behavior, and mild-moderate physical stigmatization are described. Muscular hypotonia, epilepsy, and kyphoscoliosis were associated features in several cases, as were extremes of short stature and low weight. A supernumerary chromosome was found in all six cases, and it appears that there may be a separate syndrome associated with partial trisomy of chromosome 15.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/36. The psychological and behavioral considerations of orthognathic surgery on identical (monozygotic) twins.The psychologic and behavioral changes that may occur with the impact of orthognathic surgery on the physical appearance of an identical twin set have been addressed. This unique situation has not been discussed in the literature with respect to reconstructive or cosmetic facial surgery. A report on elective orthognathic surgery performed on identical twins and the subsequent impact on the twin relationship due to alterations of "self-image phenomenon" is given. Such an impact was a consideration in this case. Further collective study in this area is needed but is difficult to obtain because of the rarity of occurrence of this type of case.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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