Uqbah has had multiple health ailments from birth, including galactosemia, right eye congenital ptosis, and autism. She has always been tube-fed as she will not take food orally due to her ...

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES ... 672_701dup) in a family with rare features of anisometropia and congenital cataracts, thus broadening the phenotypic spectrum ...

Congenital Myasthenic Syndromes (CMS ... The study also noted that many patients presented with symptoms such as ptosis and limb weakness early in life, reinforcing the need for early diagnosis ...

She had a history of congenital bilateral hearing loss ... Physical examination revealed short stature (height: 158.5 cm), high forehead hairline, hypertelorism, ptosis, low-set ears, short neck, ...

The examination also revealed several dysmorphic features, including mild ptosis, a high-arched palate ... especially when standard interventions for congenital muscular torticollis do not yield ...

Advertisement "AI-based software significantly improved detection of ultrasounds that were suspicious for congenital heart defects not only among OB-GYNs but also among maternal-fetal medicine ...

There are many potential causes for a reduction or absence of sweating, including both congenital and acquired conditions. In some cases, a lack of sweating arises for unknown reasons, which is ...

HauswirthWW, AlemanTS, KaushalS, et al. Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a ...

However, babies and children can be born with cataracts, or they may develop them as they age. A congenital cataract causes the same symptoms as adult cataracts—a clouding in the lens of the eye that ...

It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case ...