MedElevator Войти в исследования
← Поиск публикаций

DOI 10.1002/ajmg.a.40645

Медицинская библиотека · American journal of medical genetics. Part A · 2018

Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients.

Kaeppler Kathrine E, Stetson Raymond C, Lanpher Brendan C, Collura Christopher A

Клинический случайСтатьяОбзорПеревод в очереди

Аннотация

TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava) is a rare X-linked condition. As more patients are identified through genetic testing, it is increasingly clear that the original TARP acronym does not fully describe the complete phenotypic spectrum of this syndrome. The presented patient had genetically confirmed TARP syndrome and demonstrated new findings of hydronephrosis and hemodynamically significant hypertrophic obstructive cardiomyopathy. The patient also had physical findings common with previously reported individuals with TARP syndrome in the literature but not described by the TARP acronym. These features include central nervous system dysfunction, renal abnormalities, cardiac lesions other than atrial septal defect or persistent left superior vena cava, and distal limb defects other than talipes equinovarus. By adding to the known spectrum of the TARP phenotype, this report will aid clinicians as they care for patients with this rare condition.

Для цитирования: Kaeppler Kathrine E, Stetson Raymond C, Lanpher Brendan C, Collura Christopher A. Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients.. American journal of medical genetics. Part A. 2018. DOI: 10.1002/ajmg.a.40645.

Предметные рубрики MeSH

Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

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.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.