Infantile Hypercalcemia Syndrome in Twins

Wiltse, Hobart E.; Goldbloom, Richard B.; Antia, A U; Ottesen, Ole E.; Rowe, Richard D.; Cooke, Robert E.

doi:10.1056/nejm196611242752103

Cited by 53 publications

(11 citation statements)

References 13 publications

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“…In the literature, there are several reports of monozygotic twins (in some cases with varying clinical symptoms) concordant for the syndrome, and four pairs of dizygotic twins discordant for WBS are found [Page et al, 1965;Wiltse et al, 1966;Crichton and Morgan, 1967;Neilson and Hossack, 1978;Oorthuys, 1984;Murphy et al, 1990]. From our patient material on 291 families, we have reported on a pair of monozygotic female twins with WBS [Pankau et al, 1993a].…”

Section: Discussionmentioning

confidence: 71%

Familial Williams-Beuren syndrome showing varying clinical expression

et al. 2001

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Williams-Beuren syndrome (WBS) is a contiguous gene syndrome that occurs mainly sporadically, with an estimated frequency of 1:13,700 to 1:25,000 [Grimm and Wesselhoeft, 1980; Martin et al., 1984; Udwin, 1990]. The cases of monozygotic twins concordant for WBS and dizygotic twins discordant for the syndrome have been reported. In addition, a few familial cases have been described since 1993. The clinical diagnosis has been supported by molecular genetic findings in only two patients, however. We herein report on two families in which the WBS was inherited in girls from their mothers. All four patients showed the typical hemizygous deletion at 7q11.23 [46,XX, ish,del(7)(q11.23q11.23) (ELN/LIMK1/D7S-613x1, D7S486/D7S522x2)], but the clinical picture was strikingly variable within and between families.

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Section: Discussionmentioning

confidence: 71%

Familial Williams-Beuren syndrome showing varying clinical expression

et al. 2001

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“…Clinical and serological workup did not support the presence of any other large-vessel or medium-vessel vasculitides in our patient. His physical examination also did not reveal clinical stigmata of neurofibromatosis [21], melorheostosis [22], William syndrome [23], Marfan syndrome [24] or Klippel-Trenaunay-Weber syndrome [25], which have all been reported in association with renal artery stenosis.…”

Section: Discussionmentioning

confidence: 99%

Renal artery stenosis associated with Crohn disease

Kuzmić¹,

Kolaček²,

Brkljačić

et al. 2001

Pediatric Nephrology

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Although extraintestinal complications involving skin, joints, eyes and liver are common in children with inflammatory bowel disease, hypertension is rare. We report data from a 16-year-old boy with renovascular hypertension and Crohn disease. To our knowledge, a patient with renal artery stenosis associated with Crohn disease has not been previously reported. Possible causes of renal vascular lesion in Crohn disease are discussed.

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“…Twin girls with infantile hypercalcaemia, peripheral pulmonary artery stenosis, and hypoplasia of the aorta have been described (Wiltse et al, 1966). Underhill et al (1971) from their studies of the familial form of supravalvular aortic stenosis suggested that the mode of inheritance appeared to be an autosomal dominant with incomplete penetrance in males.…”

Section: Discussionmentioning

confidence: 99%