Five patients (7.9%) complained of vomiting or nausea during MPT infusion; 25 (39.7%) experienced excessive weight gain and developed an obvious Cushingoid appearance; and 26 (41.3%) had poor growth associated with long-term steroid use. [ncbi.nlm.nih.gov]

In prepuberty the siblings had proportionate short stature but developed disproportion only during adolescence. Molecular genetic analysis revealed compound heterozygosity for a known and a new mutation in the SMARCAL1 gene. [ncbi.nlm.nih.gov]

RESULTS: The patients (both males, 5 and 10 years old) had varying severity of developmental delay and other neurologic disorders. The renal involvement included hydronephrosis, ureterocele, renal dysplasia, and mesangioproliferative SRNS. [ncbi.nlm.nih.gov]

CASE PRESENTATION: A 24-year-old woman presented to our hospital with knee pain. She had poorly developed nails, hypoplastic patellas, dislocation of the elbows, and iliac horns in the pelvis. [ncbi.nlm.nih.gov]

Of the children in the FRNS/SDNS category, three (15 %) had mild sensorineural hearing impairment. These children had a low serum calcium level (P CONCLUSIONS: Children with FRNS/SDNS and SRNS are at risk of sensorineural hearing impairment. [ncbi.nlm.nih.gov]