A 2-month-old female presents to Genetics clinic for further evaluation due to history of multiple congenital anomalies, dysmorphic features (micrognathia, low-set ears, flat philtrum, bulbous nose, short neck), microcephaly, and dysphagia. 

Pregnancy/birth history: No prenatal care. Pregnancy complicated by IUGR. Uncomplicated delivery. Admitted to NICU for hypoglycemia. Prior to discharge, failed bilateral hearing screen. Echo was significant for 2 VSDs and a PFO. Ultimately, she was discharged on thickened feeds for dysphagia. 

The exam reveals significant microcephaly, short stature, right external auditory meatus absent, left external auditory meatus atretic, 2/6 ejection systolic murmur, bilateral 5th finger clinodactyly, bilateral 4,5 syndactyly and left 2,3 syndactyly. No cleft lip or palate, no triphalangeal thumbs.

Given her clinical presentation, Genetics sends a blood sample for testing which shows she has increased chromosome breakage in response to diepoxybutane (DEB).

This patient is at highest risk of developing what malignancy?

Take the quiz.

Amy Johnson, MD 
Sara Mcelroy, MD 
Division of Pediatric Hematology, Oncology, and BMT
Children’s Mercy Kansas City
Kansas City, MO, USA

Details

Categories: Case Quiz