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

J Coll Physicians Surg Pak 2008;188:520-521. [ Links ] 13. Keith J, Fabian VA, Walsh P, Sinniah R, Robitaille Y Neuropathological homology in true Galloway-Mowat syndrome. J Child Neurol 2011;264:510-517. [ Links ] 14. [scielo.mec.pt]

[…] intervertebral disk 0005108 Adducted thumb Inward turned thumb 0001181 Aqueductal stenosis 0002410 Ataxia 0001251 Camptodactyly of finger Permanent flexion of the finger 0100490 Dandy-Walker malformation 0001305 Feeding difficulties Feeding problems Poor [rarediseases.info.nih.gov]

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]

[…] inflammation of the esophagus (esophagitis); choking; closure of the larynx due to sudden, violent laryngeal contractions (laryngospasm); an inflammatory condition of the lungs caused by the entrance of food particles into the respiratory passages (aspiration pneumonia [rarediseases.org]

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]

ears Low set ears Lowset ears [ more ] 0000369 Microphthalmia Abnormally small eyeball 0000568 Midface retrusion Decreased size of midface Midface deficiency Underdevelopment of midface [ more ] 0011800 Narrow nasal ridge Decreased width of nasal ridge [rarediseases.info.nih.gov]

He exhibited ocular hypertelorism, micrognathia, and low-set ears. A brain MRI revealed lissencephaly. Generalized edema with massive proteinuria developed soon after birth. [ncbi.nlm.nih.gov]

We describe a patient with this syndrome, a 14-month-old girl with infantile nephrotic syndrome having a protein to creatinine ratio of 6.1, microcephaly, low-set ears, hypertelorism, beaked nose, narrow-forehead, almond-shaped eyes, arachnodactyly, pinpoint [scielo.mec.pt]

ears 0000400 Pachygyria Fewer and broader ridges in brain 0001302 Premature birth Premature delivery of affected infants Preterm delivery [ more ] 0001622 Seizures Seizure 0001250 Short stature Decreased body height Small stature [ more ] 0004322 5%- [rarediseases.info.nih.gov]

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]

[…] 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]

Increased nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 Ptosis Drooping upper eyelid 0000508 Renal insufficiency Renal failure Renal failure in adulthood [ more ] 0000083 Slender finger Narrow fingers Slender fingers thin [rarediseases.info.nih.gov]

Her steroids were tapered and gradually withdrawn. She was discharged on ACEi. Her renal functions remained normal throughout and the last serum creatinine was 0.34 mg/dl, which is eight months post-renal biopsy (23 months of age). [scielo.mec.pt]

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]

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]