Cases reported "Diseases in Twins"

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11/18. Holoacardius: radiologic investigation.

    A case of holoacardius is presented from a monozygotic twin pregnancy of 20 weeks, in which the other twin was normal. The classification is reviewed. While the physiology and anatomy of these malformations are known, the etiology remains obscure. Theories of etiology may be divided in two groups: that the primary deficiency is a failure of the parts to develop; and the belief that the acardius is due to an abnormal vascular communication with secondary atrophy of the formed parts. The abnormal twin in the case studied was diagnosed by ultrasound prenatally and investigated radiologically post-mortem.
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12/18. Motor development of autistic monozygotic twins: a case study.

    A pair of autistic monozygotic twins were assessed on relevant portions of the Geddes Psychomotor Inventory. Over-all motor development of the 3-yr., 6-mo. old twins was similar and considered a partial consequence of the same genotype and comparable environmental experiences from birth. The twins exhibited poor or unsuccessful performance on tasks requiring abilities in language, communication, and appropriate relationships to objects; superior performance on specific fine manual motor skills, walking balance board, and climbing; at-age performance on tasks which were considered measures of patterned gross movement, balance, postural maintenance, and spatial orientation; and few typical autistic motor characteristics.
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13/18. Twin-twin transfusion syndrome--possible roles for Doppler ultrasound and amniocentesis.

    A 29-year-old woman was referred for suspicion of twin-twin transfusion syndrome (TTTS). Several ultrasonographic and neonatal criteria of TTTS were encountered in this twin pregnancy. The peculiar observations in this case were, firstly, the demonstration of superficial anastomosis by Doppler ultrasound and, secondly, that one single therapeutic amniocentesis could have been sufficient to partially correct the progression of the syndrome, as after amniocentesis it was no longer possible to demonstrate the vascular communication. This observation suggests that superficial anastomoses could also have a role in the genesis of TTTS. Their effect could be monitored by Doppler ultrasound and could be more easily corrected by therapeutic amniocentesis.
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14/18. Acardiac twins.

    Three cases of twin pregnancy complicated by an acardiac twin are reported. This is a rare abnormality of twins. A vascular communication exists between the twins and the usually normal twin or so called 'pump' twin may develop cardiac failure as a result of perfusion of the abnormal twin. The acardiac twin is, generally, grossly abnormal with reduction anomalies, particularly of the upper part of the body, and gross oedema. Unless this abnormality is recognized the misdiagnosis of fetal death in utero may be made and the complications of the 'pump' twin may not be predicted. Three cases are presented with only one survivor.
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15/18. Caudal developmental field defect with female pseudohermaphroditism and VACTERL anomalies.

    We describe an infant who died shortly after birth, with Potter sequence and prune belly anomaly, omphalocele, single umbilical artery, imperforate anus and micropenis with empty scrotum. Fetopathological examination revealed multiple vertebral anomalies with rudimentary sacrum, hypoplasia o2 the first metacarpus on right hand, complex cardiovascular anomalies, malrotation of intestines, a dilated and blind-ending cloaca to which both ureters and a bicornuate uterus were connected, normal ovaries, hypoplastic kidneys with cystic renal dysplasia. The descending colon ended blindly and showed a fistulous communication with the cloaca. Chromosome studies on peripheral blood lymphocytes and fibroblasts of a skin biopsy demonstrated a normal 46,XX karyotype. The possible mechanisms underlying the concurrence of a caudal developmental field defect with female pseudo-hermaphroditism and additional features of the VACTERL association are discussed.
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16/18. Acardiac twins. Two case reports.

    The acardius syndrome is a rare complication of monozygotic twin pregnancies, occurring in 35,000 births. Development results from arterio-arterial and veno-venous anatomoses leading to predominance of one of the twins. The acardiac twin is grossly abnormal and the outcome is invariably fatal. The normal twin provides circulation for itself as well as the acardiac and the perinatal mortality is about 50-70%, as the result of congestive heart failure. Conservative therapy may be important for congestive cardiac failure in the normal twin. Surgical therapy is direct to maintain the pump fetus by interrupting the vascular communication between the twins. We present two cases of acardiac twin prenatally diagnosed by ultrasound and successfully managed by conservative therapy.
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17/18. valproic acid treatment of epilepsy in autistic twins.

    Case histories of autistic twins with absence seizures are presented. The boys had autistic features prior to the onset of seizures during their second year of life. By age 3 years, the twins were significantly delayed in the areas of socialization, communications and impulse control. Typical autistic features were pronounced, including perseverative, nonpurposeful and self-stimulatory behaviors; lack of symbolic play; poor eye contact; echolalic and noncommunicative speech; and unresponsiveness to disciplinary efforts. The absence seizures, although first observed by the parents early in the twins' second year, were not diagnosed until age 3 years 1 month. The seizures consisted of 50-60 staring spells per day. Both boys responded to valproic acid treatment with control of their seizures and with a dramatically accelerated rate of acquisition of both language and social skills. A possible causal relationship between autism and absence seizures in these children is explored.
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18/18. Vascular anastomoses leading to amelia and cutis aplasia in a dizygotic twin pregnancy.

    Dichorionic placentation is observed in both monozygotic (MZ) and dizygotic (DZ) twinning, while monochorionic placentation is unique to MZ twinning. Examinations of monochorionic twin placentas frequently reveal the presence of vascular anastomoses between the two fetal circulations; such anastomoses rarely occur in dichorionic placentas. Consequently, abnormalities resulting from placental vascular communications are almost exclusively observed in MZ twin pairs with monochorionic placentas. We report opposite-sex DZ twins in which vascular anastomoses occurred within a fused dichorionic placenta and were associated with vascular disruptions in one twin. The liveborn male twin had amelia, cutis aplasia, and XX/XY blood chimerism; the female twin died in utero.
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