(original magnification × 400). c Many granular casts are present with marked tubular ectasia. [ojrd.biomedcentral.com]

Severe intellectual disability is often present. [rarediseases.org]

An MRI of the brain in the present case revealed DCA. [scielo.mec.pt]

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]

Therefore, there may be an allele-specific critical role for NUP107 in regulating brain growth and GAMOS-like presentation [9]. [ncbi.nlm.nih.gov]

• Developmental Delay

  Neurological findings consisted of microcephaly, hypotonia, developmental delay, and seizures. Brain imaging studies all showed pachygyria and hypomyelination. All patients developed early-onset nephrotic syndrome. [pesquisa.bvsalud.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]

  Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes. Am J Med Genet. 1999;82(3):257–60. 4. Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, et al. [ojrd.biomedcentral.com]

  80%-99% of people have these symptoms Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Global developmental delay 0001263 Hypoplasia of [rarediseases.info.nih.gov]

  Developmental abnormalities in affected infants and children may include an inability to perform certain movement (motor) skills normal for their age (e.g., sitting up, crawling, walking, and other developmental milestones) and a profound delay in the [rarediseases.org]

• Arachnodactyly

  Arachnodactyly or camptodactyly were noted in all patients. Neurological findings consisted of microcephaly, hypotonia, developmental delay, and seizures. Brain imaging studies all showed pachygyria and hypomyelination. [pesquisa.bvsalud.org]

  Skeletal abnormalities such as arachnodactyly or camptodactyly (Fig. 2) were also noted in all patients. Other dysmorphisms included a high arch palate (5/6). [ojrd.biomedcentral.com]

  In a large study conducted by Braun et al. [11], most of the Taiwanese patients had arachnodactyly and carried OSGEP mutations. [ncbi.nlm.nih.gov]

  Her abdominal examination showed gross ascites and her fingers showed arachnodactyly (Fig. 1). Examination of the nervous system revealed no sensory or motor abnormalities. No focal deficit was elicited. The cranial nerves were intact. [scielo.mec.pt]

• Pathologist

  HSL, a renal pathologist, performed and interpreted the renal histological examination and drafted the pathologic report. HIC obtained funding. All authors read and approved the final manuscript. [ncbi.nlm.nih.gov]

• Almond-Shaped Eyes

  Her facial features had typical beaked nose, low-set, large ears, almond-shaped eyes, narrow forehead, coarse hair, and hypertelorism (Fig. 1). Her blood pressure was 67/43 mmHg. [scielo.mec.pt]

  The baby displayed various features of facial dysmorphism (microcephaly, almond-shaped eye, abnormally high but narrow forehead, ocular hypertelorism, depressed nasal bridge, large and low-set ears, micrognathia, and high-arched cleft palate), and skeletal [ncbi.nlm.nih.gov]

• Small Head

  […] skull Decreased circumference of cranium Decreased size of skull Small head circumference Reduced head circumference [ more ] 0000252 Nephropathy 0000112 Nephrotic syndrome 0000100 Proteinuria High urine protein levels Protein in urine [ more ] 0000093 [rarediseases.info.nih.gov]

• Decrease in Height

  […] body height Small stature [ more ] 0004322 5%-29% of people have these symptoms Abnormality of immune system physiology 0010978 Abnormality of the dentition Abnormal dentition Abnormal teeth Dental abnormality [ more ] 0000164 Abnormality of the intervertebral [rarediseases.info.nih.gov]

• Suggestibility

  CONCLUSIONS: Our study suggests that a careful review of the facial features can provide useful clues for an early and accurate diagnosis. [pesquisa.bvsalud.org]

  Conclusions Our study suggests that a careful review of the facial features can provide useful clues for an early and accurate diagnosis. [ojrd.biomedcentral.com]

  The authors suggested that WDR73 plays a role in regulating the microtubule network during the cell cycle, and loss of its function leads to impaired neuronal growth and brain development, as well as impaired podocyte growth and maintenance in the kidneys [ncbi.nlm.nih.gov]

  The authors suggested that this reduced expression is a non-specific secondary effect rather than a primary involvement of these genes9. [scielo.mec.pt]

• Aged Face

  All individuals were found to have an "aged face" comprising peculiar facial dysmorphisms. Arachnodactyly or camptodactyly were noted in all patients. Neurological findings consisted of microcephaly, hypotonia, developmental delay, and seizures. [pesquisa.bvsalud.org]

  All of our patients were born small for gestational age (SGA) at term or near-term (Patient IV, at 36 weeks and 6 days). All individuals were found to have an “aged face” comprising peculiar facial dysmorphisms (Fig. 1). [ojrd.biomedcentral.com]

• Renal Function Impairment

  The proteinuria was steroid-resistant and eventually resulted in renal function impairment. Prenatal ultrasound findings included microcephaly, intrauterine growth restriction, and oligohydramnios. [pesquisa.bvsalud.org]

• Renal Insufficiency

  insufficiency Renal failure Renal failure in adulthood [ more ] 0000083 Slender finger Narrow fingers Slender fingers thin fingers [ more ] 0001238 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Small for gestational age Birth [rarediseases.info.nih.gov]

• Seizure

  Therapy with anti-seizure (anticonvulsant) drugs may be prescribed for affected individuals who experience seizures to help prevent, reduce, or control seizures. [rarediseases.org]

  Seizure 0001250 Short stature Decreased body height Small stature [ more ] 0004322 5%-29% of people have these symptoms Abnormality of immune system physiology 0010978 Abnormality of the dentition Abnormal dentition Abnormal teeth Dental abnormality [rarediseases.info.nih.gov]

  Neurological findings consisted of microcephaly, hypotonia, developmental delay, and seizures. Brain imaging studies all showed pachygyria and hypomyelination. All patients developed early-onset nephrotic syndrome. [pesquisa.bvsalud.org]

  The main clinical manifestations included postnatal microcephaly, a coarse face, severe intellectual disability, seizures, cerebellar ataxia, optic atrophy, and late-onset nephrotic syndrome [4,5,6,7,8]. [ojrd.biomedcentral.com]

  There was no history of preceding febrile illness, rash, haematuria or seizures and she had received her scheduled immunizations with BCG, HepB, Polio, DTP and HiB. [scielo.mec.pt]

• Delayed Speech and Language Development

  speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]

Clinical Testing and Workup In affected infants, symptoms associated with nephrotic syndrome may become apparent within days, weeks, months, or in some cases, years after birth. [rarediseases.org]

Treatment with corticosteroids and/or immunosuppressive drugs has not been effective for nephrotic syndrome associated with Galloway-Mowat syndrome. [rarediseases.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]

She did not get any specific treatment for the ailment till she came to us. She is the second child of a consanguineous couple. Her older sister is three years old and healthy. There was no history of such illness in any family member. [scielo.mec.pt]

Overall, the long-term prognosis is not favourable, especially in early-onset cases, while the prognosis in late-onset cases, as in ours, is somewhat favourable. [scielo.mec.pt]

Parents should talk to the physician and medical team about their child’s specific case, associated symptoms and overall prognosis. [rarediseases.org]

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]

Therapy with anti-seizure (anticonvulsant) drugs may be prescribed for affected individuals who experience seizures to help prevent, reduce, or control seizures. [rarediseases.org]