Al-Owain et al. (2012) described a Saudi girl with severe growth retardation and striking facial dysmorphism.  The patient was born at term to healthy consanguineous parents but weighed only 1.2 kg at birth.  She was found to have a progeroid appearance, a large anterior fontanel, widely separated sutures and dilated skull veins.  Dysmorphic facial features also included large, low-set ears, a depressed nasal bridge with a pinched nose, a prominent forehead, thin, translucent and wrinkled skin, micrognathia, and sparse hair.  An eye examination revealed buphthalmos, glaucoma and bilateral anterior polar cataracts.  An echocardiogram found patent foramen ovale with small left to right shunt, while an abdomen ultrasound discovered bilateral cystic lucencies indicating renal tubular ectasia with horseshoe kidneys.  In the patient’s MRI scan, the corpus callosum appeared atrophic and the extra-axial CSF spaces showed a mild prominence.  The patient also had adducted thumbs and flexion deformity of the elbows and left knee.  Other findings included a hypertrophied clitoris, dislocation of both hip joints and recurrent chest infections with low IgA levels.  She had a significant failure to thrive and severe global developmental delay.  Based on her symptoms, the patient was diagnosed as having De Barsy syndrome.  Testing of the PYCR1 gene revealed a homozygous missense mutation. The CYP1B1 gene was also sequenced due to the patient’s glaucoma, but no mutation was discovered.