Five-year-old “Peter” presented to Clinical Genetics following evaluations by 27 subspecialists who were unable to provide his two physician parents with a unifying diagnosis to explain his seemingly disparate constellation of findings. But Peter’s parents were relentless in attempting to resolve their son’s diagnostic odyssey.

Peter was born at 38 weeks gestation following a pregnancy notable for IUGR. Neonatally, he had hyperbilirubinemia thrombocytopenia, and hypoglycemia. He was later noted to have GERD, a submucosal cleft palate, dysphagia, constipation, and difficulty latching leading to failure to thrive. Later, he was diagnosed with growth hormone deficiency. At 4 months of age, he underwent bilateral inguinal hernia repair. Peter had chronic infections, including recurrent otitis media with resultant conductive hearing loss. Developmental milestones were delayed, particularly speech. An Orthopaedics assessment for hammer toes, flat feet, and patellar subluxation resulted in a negative connective tissue consult. No genomic testing was performed at that time, but an echocardiogram revealed a mildly dilated aortic root. Genetics dysmorphology exam was notable for malar flatness, hooded eyelids, protuberant ears, a bulbous nasal tip with hypoplastic alae nasi, micrognathia, and long, slender fingers.

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