Wiedemann–Steiner Syndrome

Опубликовано: 20 Июль 2022
на канале: Wiki4All
1,119
9

Wiedemann–Steiner syndrome is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone. The syndrome was originally described in 1989 by Hans-Rudolf Wiedemann. The genetic basis for the syndrome was identified by Dr. Wendy D. Jones in 2012. The first case was reported in 1989 by Wiedemann and colleagues which reported a Caucasian boy with pre- and postnatal growth deficiency, psychomotor delay, and a round and flat face, short nose, widely spaced eyes, long philtrum, short palpebral fissures, low-set ears, and high-arched palate. Other findings included an alternating convergent squint, dilatation of the renal calyces, and short and thick limbs. Later decades brought about more finding and descriptions of this disorder.


Смотрите видео Wiedemann–Steiner Syndrome онлайн без регистрации, длительностью часов минут секунд в хорошем качестве. Это видео добавил пользователь Wiki4All 20 Июль 2022, не забудьте поделиться им ссылкой с друзьями и знакомыми, на нашем сайте его посмотрели 1,119 раз и оно понравилось 9 людям.