Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant.

A full-term male infant born from consanguineous Saudi parents, with one other live child, is suspected to have skeletal dysplasia on a fetal anomaly scan. Clinical findings at birth included short stature, bowed long bone affecting the lower limbs more than the upper limbs, severe joint contractures with restricted movement, failure to thrive, hypertonia, and camptodactyly of the index fingers. During infancy, the baby is noted to have sucking and swallowing difficulties necessitated nasogastric tube feeding, and recurrent respiratory distress episodes with frequent admissions due to respiratory failure required intensive care admission and mechanical ventilation. The skeletal survey demonstrated dysplasia of long bones and spine. To investigate a suspect genetic syndrome, a whole-exome sequencing test was performed, which identified a novel homozygous mutation in the LIFR gene.

The prognostic significance of hypertension at diagnosis in children with wilms tumor.

OBJECTIVES: To determine the prognostic effect of hypertension at diagnosis on outcomes of children with Wilms tumor (WT).   Methods: A single center retrospective analysis was conducted on 85 consecutive children with WT diagnosed between January 2000 and August 2013. Patients were classified as hypertensive or normotensive at diagnosis. Overall survival (OS) and progression-free survival (PFS) were estimated using the Kaplan-Meier method. Cox regression was used to determine the predictive significance of hypertension and other clinical factors.  Results: Seventy-one patients had complete data. Of this, 25 (35.2%) were hypertensive and 46 (64.8%) normotensive with corresponding remission rates of 56.0% versus 82.6%, p=0.032; and death as first event of 7% versus 0%, p=0.004. The 5-year OS in the hypertensive versus normotensive patients were (67.1±10.3% versus 89.6±4.9%, p=0.009) and the corresponding 5-year PFS were (53.4±10.4% versus 79.1±6.2%, p=0.007). With univariate analysis, hypertension and local stage were predictors of OS (p=0.012 and p=0.029) and PFS (p=0.030 and p=0.008). In the multivariate analysis, hypertension, local stage, and histopathology were identified as independent prognostic factors of OS (p=0.004, p=0.034, and p=0.038); and hypertension  and local stage as prognostic for PFS (p=0.010 and p=0.012).  Conclusion: Hypertension at diagnosis is a prognostic predictor of poor outcome in WT and may signify tumor resistance.