[FG syndrome in 2 half brothers].
Аннотация
We report on two half-brothers with the FG syndrome which is an X-linked recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome. Both patients show postnatal short stature and an altogether characteristic face consisting of droopy appearance, macrocephaly, frontal upsweep, hypertelorism, full lower lip, retrognathia, and dysmorphic ears. Moreover, since early infancy both have a tendency towards constipation, their muscle tone is low and psychomotor development is moderately retarded. Minor expression of this syndrome in the patients' mother and her two mentally retarded brothers give additional support to the X-linked nature of the condition. On the basis of the pertinent literature, a concise description of this MCA/MR syndrome with variable expression is given. Diagnostic evaluation of dysmorphic male patients with psychomotor retardation should always consider the FG syndrome which has been known since 1974 but still is inadequately recognised in the German literature.
Предметные рубрики MeSH
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
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.
Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.