Familial Williams Syndrome

Abstract

Characteristic features of the Williams syndrome were observed in a mother and her presumably dizygotic twin daughters, suggesting either an X‐linked dominant, autosomal dominant or multifactorial inheritance in this pedigree. The Williams syndrome generally has been thought to have a sporadic occurrence. The rare familial occurrence, however, suggests a possible heterogeneity in its etiology and also points out the importance of careful examination of the other family members for proper genetic counseling.

Intrauterine phenotype features of fetuses with Williams–Beuren syndrome and literature review

“…Its prevalence was about 1/7,500 to 1/20,000 in newborns (Ferrero et al., ; Pober, ; Strømme, Bjornstad, & Ramstad, ). This condition is characterized by mild‐to‐moderate intellectual disability, growth abnormalities, unique personality characteristics, a specific cognitive profile, distinctive facial features, endocrine abnormalities, and cardiovascular problems (Burn, ; Cortada, Taysi, & Hartmann, ; Game, Panicker, & Fowler, ).…”

Three Live-birth Pregnancies in a Woman with Williams Syndrome

“…Cortada et al. also reported the inheritance through the maternal line of congenital heart disease; the presumably dizygotic twin had (supra‐)valvular aortic stenosis and PPS with mild coarctation of the left pulmonary artery 7 . Morris et al.…”

“…In addition to recurrence of congenital heart disease, also different inheritance patterns of Williams syndrome through the maternal line have been described 3,4,7–11 . In the pregnancy reports, thus far, 2 children were diagnosed with genetic disorders: Williams syndrome (n = 1) and Noonan syndrome (n = 1).…”

Els jardins d'alfabia (mallorca). Materialitat, concepte i interpretació.

“…La possessió i llurs jardins es van integrar des del primer moment en el circuit d'excursions fora de Palma que feien els viatgers vuitcentistes i noucentistes. En els seus relats s'admiraren la frondositat, l'originalitat dels jocs hidràulics i la bellesa natural de l'entorn (Carr 1811;Prats 1817;Laurens 1840;Cortada 1845;Habsburg-Lorena, 1889;D'Este 1907;Larrey Duryea, 1927;Byne i Stapley 1928;Lavedan, 1936). L'any1860 va ser un dels llocs escollits per la reina Isabel II en la seva primera visita oficial a Mallorca i un entorn preferit pels artistes en la representació del paisatge de l'illa.…”