Hypotonia, global development delay and intractable seizures are clinical manifestations of MCAHSS-3. Specific dysmorphic facial features such as high forehead with bitemporal narrowing, depressed nasal bridge, long philtrum and low-set ears characterizes MCAHSS-3. Brain imaging in reported cases mainly revealed brain atrophy of variable regions such as frontal, brainstem, cerebellar, vermis or basal ganglia. The cardiological features include patent ductus arteriosus, cardiomyopathy and increased atrial load on ECG. The urologic findings reported are ureteral dilatation, urolithiasis, nephrocalcinosis, cysts and dysplasia. Abnormal phosphatase alkaline value and tooth anomalies were also reported. The skeletal features include scoliosis, osteoporosis, craniosynostosis, short arm, delayed bone age and reduce mineralization.
PIGT