Presentation
(original magnification × 400). c Many granular casts are present with marked tubular ectasia. [ojrd.biomedcentral.com]
Acronym GAMOS5 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
We reviewed their clinical manifestations, the prenatal and postnatal presentations and ultrasound findings, results of imaging studies, associated anomalies, and outcome on follow-up. [pesquisa.bvsalud.org]
Ears
- Hearing Impairment
Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017). [ncbi.nlm.nih.gov]
Eyes
- Visual Impairment
Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. [uniprot.org]
Face, Head & Neck
- Narrow Forehead
Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. [uniprot.org]
Neurologic
- Encephalopathy
[…] ultrasound and perinatal magnetic resonance imaging findings. 61 Chen CP...Wang W 21791310 2011 33 Neuropathological homology in true Galloway-Mowat syndrome. 61 Keith J...Robitaille Y 21233460 2011 34 Galloway-Mowat syndrome: an early-onset progressive encephalopathy [malacards.org]
Treatment
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]
(July 2017) Treatment[edit] This section is empty. You can help by adding to it. (July 2017) References[edit] ^ a b Cooperstone BG, Friedman A, Kaplan BS (Aug 1993). [en.wikipedia.org]
61 Lin CC...Shih CS 11519896 2001 48 Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay. 61 de Vries BB...Winter RM 11310991 2001 49 A stepwise approach to the treatment of early onset nephrotic syndrome [malacards.org]
The proteinuria was progressive and unresponsive to corticosteroid treatment, and this eventually resulted in massive proteinuria (range of urine protein to creatinine ratio, 20.4–740) and renal function impairment. [ojrd.biomedcentral.com]
Prognosis
From a pathological point of view, Keith et al. showed that children with disordered neuronal migration tend to have a worse prognosis (true GAMOS), and those without gyral abnormalities have a better prognosis [19]. [ojrd.biomedcentral.com]