Patient had dysmorphic faces (prominent forehead, broad nasal bridge and hyperteoloerism) ( Figure 1 ). [omicsonline.org]

On presentation to our center, he looked pale and had respiratory distress, tachycardia, and hypertension with as blood pressure of 140/90 (above the 95th centile for age, gender and height). [omicsonline.org]

His perinatal history was uneventful, but yet the mother noticed that her child had a visual problem with difficulty fixing on objects together coupled with abnormal eye movements. [omicsonline.org]

This work was supported by the Association Française contre les Myopathies, the Association pour l'Utilisation du Rein Artificiel, the Fondation pour la Recherche Médicale (to G.M.) and the Ministère de l'Education Nationale, de la Recherche et de la [doi.org]

Patient had dysmorphic faces (prominent forehead, broad nasal bridge and hyperteoloerism) ( Figure 1 ). [omicsonline.org]

failure in young peoplepanel. [panelapp.genomicsengland.co.uk]

[Epub ahead of print] Abstract: NPHP4 mutations cause nephronophthisis, an autosomal recessive cystic kidney disease associated with renal fibrosis and kidney failure. [gene-tools.com]

Complications Kidney failure : Kidney disease is progressive in Senior-Loken syndrome (SLS), so kidney failure often develops. Kidney failure may be life threatening if not properly treated with dietary restriction and dialysis. [naturesoasismarket.com]

About half of people with the most common type of PKD end up with kidney failure. PKD also causes cysts in other parts of the body, such as the liver. Often, there are no symptoms at first. [icdlist.com]

The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure. [en.wikipedia.org]

The brother (case 2) was the first-born of preterm triplets via a cesarean section and his birth weight was 2 kg. [omicsonline.org]