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Hepatic P450 cytochromes are much more ancient and robust than microsomal enzymes involved in steroidogenesis. Thus, hepatic enzymes are not as susceptible to impairment due to a single mutation. To date, our patient has shown no adverse/idiosyncratic effects to the exposure of the life-long medication he has received (acetaminophen, anaesthetics, antibiotics and anti-inflammatory). Learning points Cytochrome P450 oxidoreductase deficiency (PORD) is a rare autosomal recessive disorder. PORD has a broad range of clinical manifestations due to an impaired steroidogenesis: ambiguous genitalia, adrenal insufficiency and skeletal malformations. Disorder of sex development can be the unique initial manifestation of cytochrome PORD. Adrenal insufficiency #click here randurls[1|1|,|CHEM1|]# is a potential risk in the majority of these patients. Footnotes Contributors: RC was involved in conception and design, SA was involved in the acquisition of data, DS-G in drafting the manuscript, BEin molecular diagnosis. Furthermore all authors made the critical revision of the manuscript. Competing interests: None. Patient consent: Obtained. Provenance and peer review: Not commissioned; externally peer reviewed.""A 4-year-old boy reported to our outpatient department with swelling over the right lower jaw region since 6?months. The swelling had remained asymptomatic while gradually enlarging to cause the facial disfigurement evident at the time of presentation. No history of trauma was elicited nor any systemic or local infections. The prenatal history was unremarkable and delivery was at full term and normal. There was no history of similar disease in any of the siblings or the parents of the affected child. A physical examination revealed a moderately built and nourished boy with no known systemic disorder. A facial asymmetry due to a poorly defined swelling in the right angle of the mandible measuring 2��3?cm was noted (figure 1). The overlying skin appeared normal, while the swelling itself was bony hard and non-tender to palpation. Intraoral examination showed a diffuse swelling in the alveolar portion of 85 region with slight obliteration of buccal vestibule in the same region (figure 2). Tooth displacement and mobility were not evident in the same quadrant. The overlying mucosa appeared normal. The swelling was non-tender and bony hard on palpation with some areas of fluctuance in the buccal aspect. The adjacent dentition and the oral mucosa did not reveal any abnormality. A tooth vitality test revealed normal pulpal response of the teeth in the same quadrant. A provisional diagnosis of dentigerous cyst was made with the differential diagnosis of ameloblastoma, CGCG, odontogenic myxoma and fibrous dysplasia. Later on the patient was subjected to radiographic examination in the form of orthopantomogram which revealed a solitary well-defined multilocular radiolucent lesion in the region of right mandibular angle and ramus (figure 3).