Haematometra in the Langer-Giedion syndrome.

Partington, M. W.; Rae, John; Payne, Miranda

doi:10.1136/jmg.28.9.644-b

Cited by 10 publications

(4 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There could be a different spectrum of genital hypoplasia in female patients. Three previous studies reported genital abnormalities and TRPS II; one reported hydrometrocolpos in three children and a deletion on 8q24.11–q24.13, another showed a girl with persistent cloaca and prune belly sequence and a deletion on 8q24.11–q24.13, and another reported a woman with vaginal atresia and haematometra with a deletion on 8q24.11–q24.12 . All were detected by high‐resolution G banding; these cases overlap with the site of deletion in our patient.…”

supporting

confidence: 64%

“…It sometimes also includes the clinical features of Cornelia de Lange syndrome 4 (OMIM 614701). Hydrometrocolpos with haematometra, persistent cloaca with prune belly sequence, and other clinical findings have also been observed in TRPS II probands . Most cases of TRPS II arise de novo , and a few familial cases with an autosomal dominant pattern have been reported .…”

mentioning

confidence: 95%

See 1 more Smart Citation

Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis

Plaza-Benhumea¹,

Valdes-Miranda²,

Toral-López³

et al. 2014

Br J Dermatol

View full text Add to dashboard Cite

supporting

confidence: 64%

mentioning

confidence: 95%

Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis

Plaza-Benhumea¹,

Valdes-Miranda²,

Toral-López³

et al. 2014

Br J Dermatol

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 96%

“…However, Frynes et al, [9] and Partington et al, [10] described hydrometrocolpos and hematometra as complications of this syndrome. Kozlowski et al [11], and Partington et al, [10] described uretral reflux in LGS patients which required reimplantation of the ureters into the bladder. Also Ramos et al, [12] found persistent cloaca and the prune belly sequence, and Morioka, et al, [13] described a patient with submucous cleft palate.…”

Section: Discussionmentioning

confidence: 96%

Trichorhinophalangeal syndrome II, expanding the clinical spectrum

Shawky

Elkhalek

Elghawaby

et al. 2015

Egyptian Journal of Medical Human Genetics

View full text Add to dashboard Cite

We report a 4.5 year old Egyptian male child, fourth in the order of birth of healthy remote consanguineous parents. He has typical facial as well as skeletal features of Trichorhinophalangeal syndrome (TRPS) II. The facial features included bilateral downward slanting palpebral fissures, bulbous nose, long filtrum, retromicrognathia, sparse hair in the scalp and thick eyebrows. The skeletal features included retarded bone age, cone shaped epiphyses of the phalanges and multiple exostoses. The patient has also growth retardation, moderate mental retardation and hyperlaxity of the right knee joint. However our patient has some features not reported in TRPS II patients. These included bilateral partial ptosis, long eye lashes, preauricular skin tag, short 2nd right finger, short metacarpals of both thumbs. So we have to expand the clinical spectrum. Karyotype demonstrated 46,XY,del 8(q23.3-q24.1).Ó 2014 Production and hosting by Elsevier B.V. on behalf of Ain Shams University.

show abstract

The other side of the coin: A hypothesis concerning the importance of genes for high intelligence and evolution of the X chromosome

Lubs

1999

Am. J. Med. Genet.

View full text Add to dashboard Cite

The observation that there are more males than females at the lower end of the IQ distribution has been confirmed many times and is generally accepted. Because the mean IQ of males and females is the same, there should be a concomitant increase in the number of males at the higher end of the IQ distribution. This, in fact, has been observed and reported many times in the literature over the last 50 years. In 1945, Fraser Roberts reviewed data from two relatively unbiased studies of IQs in British children, both showing greater variability in males but no difference in mean IQ. Using the smaller, more conservative variance (13%), he presented tables showing the relative number of boys/ 100 girls in the extreme percentiles. For both the cleverest and dullest 1%, there were 144 boys per 100 girls. For the cleverest or dullest 0.1%, there were 186 boys per 100 girls.Although conveniently ignored for most of the last 50 years, the published evidence of greater male variability in intelligence and related tests at both ends of the spectrum is very strong, as shown by a recent review [Hedges and Nowell, 1995] of a series of related tests. They performed secondary analyses of six data sets collected over 20 years on large, national samples of U.S. children. Among the 32 tests for reading comprehension, vocabulary, mathematics, perceptual speed, science, social studies, nonverbal reasoning, associative memory, and spatial ability, the variance was greater in males in 30. However, in no test were males more variable in both the high and low end of the distribution, and the direction usually followed a small (10%) but significant difference in means. When there was a higher mean in males, there were more males in the upper percentiles and vice versa. Males were better at mathematics, science, and spatial ability and worse at perceptual speed, associative memory, and reading comprehension, but clearly were more variable. These results are very similar to those reported by Wechsler in 1958 in a chapter on sex differences in intelligence. Among the 11 subtests, males were better in four, females were better in two, and there was little difference in five. Therefore, the similar means in males and females are, in part, a result of the selection of tests in which males do better in some and females do better in others. It could be done differently and, indeed, Wexler, in the same chapter, also sorted the tests to show profiles of maleness and femaleness. However, it never became popular. He did not comment on the small excesses in male variances, but these were largely in the direction of being greater in males. The conclusions remain the same. Males are better at some things, worse at others, but more variable.These results, which indicate that the overall male or female distribution is shifted upwards or downwards for a particular cognitive function, are much more easily explained by testosterone (or estrogen) effects on males in general, rather than the effects of rare genetic variations that would affect only a few. However,...

show abstract

Haematometra in the Langer-Giedion syndrome.

Cited by 10 publications

References 3 publications

Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis

Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis

Trichorhinophalangeal syndrome II, expanding the clinical spectrum

The other side of the coin: A hypothesis concerning the importance of genes for high intelligence and evolution of the X chromosome

Contact Info

Product

Resources

About