A. T. is a Caucasian male, former 27 week gestational age premature infant, with a history significant for respiratory distress and patent ductus arteriosus. He was discharged from the Neonatal Intensive Care Unit (NICU) at 3 months of age with no significant medical problems. His growth and stature had always been under the 5th percentile corrected for gestational age but remained parallel to the curve. After 12 months of age, his growth rate declined. Diagnosed with failure to thrive, he underwent a work-up which identified a 0.8 Mb deletion at band 13 in the long arm of one chromosome 2. Despite this imbalanced genomic alteration, his phenotype did not correlate to Joubert syndrome, as suggested by the array comparative genomic hybridization assay interpretation. His phenotype (failure to thrive, short stature, speech delay, and mild head and face dysmorphisms) and genotype do not match any published case report criteria for a recognized pattern of human malformation.
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