Congenital hypertrophic pyloric stenosis in phenotypic female twins with X-XX mosaicism.

Horst, R Van Der; Frankel, Jacob J.; Grace, Julienne

doi:10.1136/adc.46.248.554

Cited by 7 publications

(2 citation statements)

References 6 publications

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“…Mosaicism, detected in our case as well as in several other cases of monozygotic twins discordant for gonadal dysgenesis (Mikkelsen et al, 1963;Edwards et al, 1966;Ross et al, 1969) was also present in at least five (Turner and Zanartu, 1962;Russell et al, 1966;Ferrier, Ferrier, and Kelley, 1970;Muller et al, 1970;van der Horst, Frankel, and Grace, 1971) and probably six (Lemli and Smith, 1963) of the nine reported monozygotic female twin pairs concordant for sex chromosomal aneuploidy. * Furthermore, in our opinion, the reported data for the three remaining twin pairs (Decourt et al, 1964;Klempman, 1964;Riekhof, 1972) are not sufficient for accurate assessment of mosaicism.…”

Section: Discussionsupporting

confidence: 66%

The occurrence of gonadal dysgenesis in association with monozygotic twinning.

Karp¹,

Bryant²,

Tagatz³

et al. 1975

Journal of Medical Genetics

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Section: Discussionsupporting

confidence: 66%

The occurrence of gonadal dysgenesis in association with monozygotic twinning.

Karp¹,

Bryant²,

Tagatz³

et al. 1975

Journal of Medical Genetics

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“…Whether this is a primary association or whether it is a result of the prolonged vomiting is not clear. As regards chromosomal abnormalities, a significantly increased incidence of pyloric stenosis is associated with ovarian dysgenesis (27) and X/XX mosaicism (28). An association with dominantly inherited polycystic kidneys has been described (29), malrotation and the Smith-Lemli-Opitz syndrome (30).…”

Section: Epidemiologymentioning

confidence: 99%

Infantile hypertrophic pyloric stenosis: A review

Spicer

1982

Journal of British Surgery

136

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Infantile hypertrophic pyloric stenosis is a relatively common condition and there is some recent evidence that the incidence is increasing in this country. Gastric outlet obstruction is caused by hypertrophy of the pyloric smooth muscle and the clinical presentation is with non-bilious vomiting starting at the age of 3-4 weeks. The diagnosis can usually be made by palpation of the hypertrophied pylorus. Operation has now superseded medical treatment as the treatment of choice but meticulous assessment and correction of fluid and electrolyte imbalance is essential preoperatively. The operation of pyloromyotomy as described by Ramstedt in 1912 is simple and effective, but attention to detail is necessary if minimal morbidity and zero mortality are to be achieved. Untreated, the mortality is high but, after successful treatment, these babies are healthy and normal, so that treatment is both worth while and gratifying. The aetiology is obscure; a polygenic pattern of inheritance has been shown to be a predisposing factor, but the postnatal precipitating factors are less defined. Early hopes that the hormone gastrin might prove to be the key have not been sustained by more recent research, but the role of other gastrointestinal hormones awaits clarification.

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