A case of oral-facial-digital (OFD) syndrome with urogenital anomaly

A new case of OFD syndrome with abnormal vaginal opening to bladder and bilateral hydronephrosis was reported. She was noticed of postaxial polydactyly in both hands and feet, left central polydactyly, and syndactyly in left hand and feet at birth. She was diagnosed as OFD syndrome because she had multiple frenula in gingiva, irregular ridge of gingiva, two small hamartomatous nodules on tongue, micrognathia, low setting of ears, long philtrum, and alar hypoplasia of the nose. She also complained abdominal distension and poor sucking. Abdominal CT scan revealed two cystic mass above the bladder and severe bilateral hydronephrosis. Cystoscopy found out three openings in bladder and they were revealed to be bilateral ureters and vagina. Two cystic mass were uterus and vagina filled with urine. X-ray film showed dysplasias of left ulna, right fibula and tibia, and phalanges. Hypothalamic hamartoma and atrophy of left cerebral hemisphere were noticed on brain MRI. At four months of age, breast budding and vaginal bleeding were observed with elevated serum LH, FSH and E2. Both LH and FSH response were exaggerated following LHRH stimulation and she was diagnosed as central precocious puberty. At least eight types of this syndrome have been described to date according to clinical features and mode of inheritance. Most of the abnormalities found in our patient are consistent with an OFD syndrome, but urogenital anomalies in the syndrome have not been reported except polycystic kidneys in type I, renal agenesis or dysplasia in type VI and congenital hydronephrosis in type VII. Despite the similarities between the clinical findings in the case and types III, IV and VI, this patient might be a new type of OFD.