Anencephaly in one monoamniotic-monochorionic twin and encephalocele in the other. 1985

B Putz, and H Rehder

This is a report of monoamniotic-monochorionic (ie, probably MZ) twins, one of which had anencephaly, whereas the co-twin died of complications of prematurity. Autopsy in this seemingly nonmalformed twin showed a small encephalocele. The literature on MZ twins with discordant anencephaly is often contradictory. It is suggested that this might be due to the difficulty of determining zygosity on the one hand and identifying discordance or concordance on the other. This case is presented as an example of this difficulty; it is discordant with respect to anencephaly, but concordant in the sense of "dysraphic" disturbances.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D004677 Encephalocele Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur. Frontal Encephalocele,Hernia, Cerebral,Occipital Encephalocele,Acquired Encephalocele,Bifid Cranium,Cephalocele,Cerebellar Hernia,Cerebellar Herniation,Cranial Meningoencephalocele,Craniocele,Cranium Bifidum,Encephalocele, Acquired,Encephalocele, Frontal,Encephalocele, Occipital,Encephalocele, Sincipital,Notoencephalocele,Sincipital Encephalocele,Tonsillar Hernia,Tonsillar Herniation,Acquired Encephaloceles,Bifid Craniums,Bifidum, Cranium,Bifidums, Cranium,Cephaloceles,Cerebellar Hernias,Cerebellar Herniations,Cerebral Hernia,Cerebral Hernias,Cranial Meningoencephaloceles,Cranioceles,Cranium Bifidums,Cranium, Bifid,Craniums, Bifid,Encephaloceles,Encephaloceles, Acquired,Encephaloceles, Frontal,Encephaloceles, Occipital,Encephaloceles, Sincipital,Frontal Encephaloceles,Hernia, Cerebellar,Hernia, Tonsillar,Hernias, Cerebellar,Hernias, Cerebral,Hernias, Tonsillar,Herniation, Cerebellar,Herniation, Tonsillar,Herniations, Cerebellar,Herniations, Tonsillar,Meningoencephalocele, Cranial,Meningoencephaloceles, Cranial,Notoencephaloceles,Occipital Encephaloceles,Sincipital Encephaloceles,Tonsillar Hernias,Tonsillar Herniations
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000757 Anencephaly A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247) Aprosencephaly,Absence of Brain, Congenital,Anencephalia,Anencephalus,Congenital Absence of Brain,Hemicranial Anencephaly,Incomplete Anencephaly,Partial Anencephaly,Anencephalias,Anencephalies, Partial,Anencephaly, Hemicranial,Anencephaly, Incomplete,Anencephaly, Partial,Aprosencephalies,Brain Congenital Absence,Partial Anencephalies
D014427 Twins Two individuals derived from two FETUSES that were fertilized at or about the same time, developed in the UTERUS simultaneously, and born to the same mother. Twins are either monozygotic (TWINS, MONOZYGOTIC) or dizygotic (TWINS, DIZYGOTIC). Twin
D014430 Twins, Monozygotic Two off-spring from the same PREGNANCY. They are from a single fertilized OVUM that split into two EMBRYOS. Such twins are usually genetically identical and of the same sex. Twins, Identical,Identical Twin,Identical Twins,Monozygotic Twin,Monozygotic Twins,Twin, Identical,Twin, Monozygotic

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