0000000000385056
AUTHOR
Mandy Schierz
Esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report
Key Clinical Message Recent studies report a high incidence of monozygotic twinning in Beckwith–Wiedemann syndrome. A phenotypical discordance in monozygotic twins is rare. Twinning and Beckwith–Wiedemann syndrome show higher incidence in children born after assisted reproductive techniques. We report on the first observation of esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant monozygotic twins.
Lesioni cutanee stellate e simmetriche in un gemello “rimasto solo”
The incidence of multiple pregnancy has increased, particularly because of the advances in assisted reproductive technologies. Multiple gestations are high risk pregnancies, especially the monochorionic ones. Two/thirds of initially twin pregnancies result in singles at birth, a condition defined as vanishing twin syndrome. The intrauterine death of one of the twins can cause direct fetal damage to the surviving one on several levels. The paper describes the case of a child born from twin pregnancy that was interrupted for one of the co-twins at early second trimester of gestation who presented with aplasia cutis congenita.
Il neonato con gli occhi socchiusi. La displasia ectodermica legata al gene TP63
An Italian female newborn presented with cleft palate, erythroderma, desquamations, skin erosions, ankyloblepharon filiforme adnatum, broad nasal root, short philtrum, thin vermillion border, maxillary hypoplasia, microstomia, microglossia, cupped ears, hypoplasia of the distal phalange of left index, widely spaced nipples and polythelia. The hallmarks of ankyloblepharon-ectodermal dysplasia-clefting syndrome (or Hay-Wells syndrome) as well as persistent scalp erosions led to exclude more frequent skin disorders like congenital ichthyosiform erythroderma or epidermolysis bullosa and to diagnose Hay-Wells syndrome by genetic analysis. Target sequencing of the tumour protein p63 (TP63) gene r…