American journal of medical genetics. Part A · 2013
Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Toriello Helga V, Erick Miriam, Alessandri Jean-Luc, Bailey Diana, Brunetti-Pierri Nicola, Cox Helen, Fryer Alan, Marty Denise, McCurdy Charles, Mulliken John B, Murphy Helen, Omlor Joseph, Pauli Richard M, Ranells Judith D, Sanchez-Valle Amarillis, Tobiasz Ana, Van Maldergem Lionel, Lin Angela E
Аннотация
Chondrodysplasia punctata (CDP) is an etiologically heterogeneous disorder characterized by the radiographic finding of stippled epiphyses (punctate calcifications). It is often accompanied by a characteristic facial appearance, known as the Binder phenotype, which is attributed to hypoplasia of the nasal cartilages; abnormal distal phalanges (brachytelephalangy) are a common component manifestation as well. We report eight patients with a Binder phenotype with or without CDP who all shared a known or suspected maternal deficiency of vitamin K. We suspect that this phenotype is probably under recognized, and we hope to increase awareness about the maternal risk factors, especially hyperemesis gravidarum, which lead to nutritional deficiency.