Congenital Abnormalities of the Uterus and Pregnancy

Holmes, J. H. G.

doi:10.1136/bmj.1.4976.1144

Cited by 23 publications

(6 citation statements)

References 6 publications

(8 reference statements)

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“…Both resolving cases initially had significant asymmetry, particularly of the craniofacies. The newer systems reflect the many variations of M€ ullerian development [Falls, 1956;Holmes, 1956;Jones, 1981;Woelfer et al, 2001;Lev-Toaff et al, 2003;Rackow and Arici, 2007;Ghi et al, 2009;Gubbini et al, 2009]. In all of these cases, the asymmetry mostly resolved shortly after birth.…”

Section: Resultsmentioning

confidence: 98%

“…Systems for categorizing [Holden and Hart, 1983;Byrne et al, 2000;Woelfer et al, 2001;Alborzi et al, 2002;Airoldi et al, 2005;Braun et al, 2005;Jayasinghe et al, 2005;Ghi et al, 2009;Gubbini et al, 2009;Bermejo et al, 2010]. The newer systems reflect the many variations of M€ ullerian development [Falls, 1956;Holmes, 1956;Jones, 1981;Woelfer et al, 2001;Lev-Toaff et al, 2003;Rackow and Arici, 2007;Ghi et al, 2009;Gubbini et al, 2009]. Two-thirds of these 33 cases were ascertained after 1990 when ultrasound became readily available.…”

Section: Resultsmentioning

confidence: 99%

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Uterine structural anomalies and arthrogryposis—death of an urban legend

Hall

2012

American J of Med Genetics Pt A

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In a review of 2,300 cases of arthrogryposis collected over the last 35 years, 33 cases of maternal uterine structural anomalies were identified (1.3%). These cases of arthrogryposis represent a very heterogeneous group of types of arthrogryposis. Over half of individuals affected with arthrogryposis demonstrated asymmetry and some responded to removal of constraint, 29 of the 33 cases of arthrogryposis whose mother had a uterine structural anomaly could be identified as having a specific recognizable type of arthrogryposis. Only two cases (0.08%) had primarily proximal contractures that returned to almost normal function within 1 year. Craniofacial asymmetry was the most striking finding in these two cases. A quarter of cases had ruptured membranes between 32 and 36 weeks and either oligohydramnios or prematurity. The pregnancy histories of the mothers with uterine structural anomalies were typical in having infertility, multiple miscarriages, and stillbirths. The finding of only two cases which are likely to have multiple congenital contractures on the basis of uterine constraint suggests that it is a very rare primary cause of arthrogryposis.

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Section: Resultsmentioning

confidence: 98%

Section: Resultsmentioning

confidence: 99%

Uterine structural anomalies and arthrogryposis—death of an urban legend

Hall

2012

American J of Med Genetics Pt A

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“…Familial aggregates of IMF include multiple affected siblings as well as affected mothers and daughters [Nykiforuk, 1938;Tyler, 1939;Way, 1945;Holmes, 1956;Stevenson et al, 1959;Hay, 1961;Polishuk and Ron, 1974;Verp et al, 1983;Elias et al, 1984;Ergun et al, 1997]. Different affected relatives may have diverse forms of IMF [Ergun et al, 1997].…”

Section: Geneticsmentioning

confidence: 99%

Genetics of the female reproductive ducts

Simpson

2000

Am. J. Med. Genet.

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Familial aggregates of the most common disorders of müllerian differentiation in females-Müllerian aplasia, incomplete Müllerian fusion-are best explained on the basis of polygenic/multifactorial inheritance. No information exists on the number and chromosomal location of responsible genes. Single mutant genes (Mendelian) are responsible for the McKusick-Kaufman syndrome (MKS) and the hand-foot-genital syndrome. The molecular basis for the latter condition involves HOXA13, but the molecular basis of MKS and other disorders of the female reproductive ducts is unknown. Vaginal atresia, Müllerian aplasia, and incomplete Müllerian fusion are not infrequently observed in malformation syndromes.

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“…Way 28 and later Stevenson and colleagues 29 described a mother with a bicornuate uterus having a stillborn infant with a similar defect. Holmes, 30 in 1956, reported 9 cases of uterine duplication with 1 patient having a stillborn infant with numerous congenital anomalies, including uterus bicornis unicollis.…”

Section: Genetic Aspectsmentioning

confidence: 99%

Uterine Anomalies

Freedman¹

1986

Semin Reprod Med

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Congenital Abnormalities of the Uterus and Pregnancy

Cited by 23 publications

References 6 publications

Uterine structural anomalies and arthrogryposis—death of an urban legend

Uterine structural anomalies and arthrogryposis—death of an urban legend

Genetics of the female reproductive ducts

Uterine Anomalies

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