A turner‐like phenotype in the aborted fetus

Poland, Betty J.; Dill, F. J.; Paradice, Barbara A.

doi:10.1002/tera.1420210313

Cited by 24 publications

(8 citation statements)

References 7 publications

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“…They considered that marked edema with lymphangiectasia and large posterior cervical hygroma but apparently normal female gonads and genitalia were characteristic and possibly diagnostic of the Ullrich-Turner syndrome (UTS) in aborted fetuses. The same external malformations of 4 5 3 fetuses were also recorded by other investigators [Rushton et al, 1969;Poland et al, 1980;Byrne et al, 19841. However, more recently it has been pointed out that posterior cervical hygroma cannot be regarded as a specific of the 45,X chromosome constitution as it can occur in a variety of other syndromes and malformations [Cowchock et al, 1982;Bieber et al, 1979;Graham and Smith, 1981;Chervenak et al, 1983;Stephens and Shepard, 1981;Redford et al, 1984;Pearce et al, 1984;Dallapiccola et al, 1984;Greenberg et al, 19831.…”

Section: Introductionsupporting

confidence: 83%

Differential diagnosis of posterior cervical hygroma in previable fetuses

Kalousek

Seller

1987

Am. J. Med. Genet.

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Posterior cervical hygroma, once considered diagnostic of fetal Ullrich-Turner syndrome, is now recognized as being a nonspecific malformation found in a number of unrelated conditions. We have studied 61 fetuses of 1G23 developmental weeks from therapeutic and spontaneous abortions who had posterior cervical hygroma. We found that the group was indeed markedly heterogeneous, for both sexes were represented, and a variety of genetic and nongenetic disorders were present, such as trisomy 18,21, and probably also 13; lethal multiple pterygium syndrome; Noonan syndrome; isolated congenital heart defect, isolated pterygium colli; and monosomy X (45,X). Unlike any of the other conditions, 45,X fetuses had a constant association of 3 defects-posterior cervical cystic hygroma, generalized subcutaneous oedema, and preductal aortic coarctation. Therefore, we suggest that this triad is diagnostic of lethal Ullrich-Turner syndrome in the fetal period and that it may be used reliably to diagnose the syndrome in fetuses when chromosome analysis is impossible. Further, since preductal coarctation of the aorta is found in only a small proportion of liveborn girls with Ullrich-Turner syndrome, but occurred in all aborted fetuses in our study, we suggest that this abnormality is related to the lethality of the 45,X chromosome constitution during fetal development.

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Section: Introductionsupporting

confidence: 83%

Differential diagnosis of posterior cervical hygroma in previable fetuses

Kalousek

Seller

1987

Am. J. Med. Genet.

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“…Furthermore, not all 45,X fetuses will have generalized edema prominently involving limbs. 6 Our findings differ from those of Byrne et al2 in that placental histology was not useful in discriminating mono¬ somy X from other conditions. Of two monosomy X placentas, one showed mild villous edema and trophoblastic inclusions, but the other (a dichorionic, diamnionic twin placenta sampled bilaterally) was unremarka¬ ble (Fig 3).…”

Section: Resultscontrasting

confidence: 57%

Fetal Cystic Hygroma and Turner's Syndrome

Carr¹

1986

Arch Pediatr Adolesc Med

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“…Diaphragmatic hernia and hydranencephaly are other less frequent features of LMPS [Chen et al, 1984;Mbakop et al, 19861. Micrognathia with associated cleft palate (Pierre Robin sequence) are among the craniofacial anomalies seen in patients with the fetal akinesia sequence. In this respect it is interesting to note that Poland et al [1980] found a cleft palate in 3 of 22 aborted fetuses with cystic hygroma colli. Cowchock et al 119821 described cystic hygroma accompanied by cleft palate in second trimester sib fetuses with normal chromosomes.…”

Section: Discussionmentioning

confidence: 91%

Pathogenesis of the lethal multiple pterygium syndrome

et al. 1990

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We present autopsy studies in 4 unrelated fetuses with the lethal multiple pterygium syndrome (LMPS) with special emphasis on the neuromuscular system. The data suggest that LMPS combines the manifestations of a jugular lymphatic obstruction sequence with those of an early severe fetal akinesia sequence. The jugular lymphatic obstruction sequence with resultant edema and cystic hygroma colli causes fetal lethality usually in the second trimester of pregnancy. Generalized amyoplasia appears to be an important mechanism in the pathogenesis of fetal akinesia as part of LMPS and is not associated with dysgenesis or degeneration of the central nervous system (CNS) but is apparently the result of an early fetal muscular "dystrophy." We propose a genetically determined insult affecting the early embryonic development of both lymph vessels and muscles as the basic defect in LMPS. Placental structure, studied in all 4 cases, demonstrated that triploidy-like placental lesions are specific to LMPS. The present findings suggest that LMPS may be a less heterogeneous entity than previously proposed.

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A turner‐like phenotype in the aborted fetus

Cited by 24 publications

References 7 publications

Differential diagnosis of posterior cervical hygroma in previable fetuses

Differential diagnosis of posterior cervical hygroma in previable fetuses

Fetal Cystic Hygroma and Turner's Syndrome

Pathogenesis of the lethal multiple pterygium syndrome

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