Johanson-Blizzard syndrome with associated urogenital anomalies.

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BMJ Case Rep


We present a case of a child with pancreatic insufficiency and facial defects typical of Johanson-Blizzard syndrome (JBS), along with the more facultative anomalies of the JBS, such as those of the urogenital system including persistent urogenital sinus, urethral duplication and dysplastic kidneys. Fetal ultrasound in a 21-year-old G1P1 woman revealed ambiguous genitalia. Examination at birth revealed a phallic structure with urethral meatus, non-palpable gonads, two orifices in close proximity in the perineum, with the anterior being a common urogenital channel and the posterior, the rectum. A voiding cystourethrogram/genitogram showed bilateral high-grade vesicoureteral reflux and a common urogenital sinus extending 1.5 cm before dividing into three channels: the native urethra, an accessory urethra directed anteriorly towards the clitoris and a septate vagina with uterus didelphys. JBS was suspected by clinical presentation and confirmed by UBR1 molecular testing (46,XX). At 16 months of age, she underwent feminising genitoplasty and posterior sagittal anorectoplasty.

Medical Subject Headings

Anus, Imperforate; Diagnosis, Differential; Ectodermal Dysplasia; Female; Growth Disorders; Hearing Loss, Sensorineural; Humans; Hypothyroidism; Infant, Newborn; Intellectual Disability; Nose; Pancreatic Diseases; Pregnancy; Ultrasonography, Prenatal; Urogenital Abnormalities; Young Adult

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