Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case
A 2.5-month-old girl was admitted to our hospital for evaluation of abnormal respiratory pattern (episodic tachypnea and/or apnea) and hypotonia. She was the first child of healthy consanguineous parents. The baby was born at term by vaginal delivery after an uneventful pregnancy and did not cry immediately after birth. On admission to the hospital, the baby was found to have episodes of breathlessness, with a respiratory rate of up to 100 breaths/min, alternating with apnea lasting for 15-20 s with cyanosis. On physical examination, her weight was 2500 g (<3rd percentile), her length was 47 cm (<3rd percentile) and her head circumference was 36.5 cm (3rd percentile). Facial features include broad forehead, arched eyebrows, left-sided squint, epicanthic folds and widely spaced eyes (hypertelorism). Examination of the oral cavity revealed midline upper lip cleft and bilateral fleshy nodules on the under surface of the tongue, bumps of the lower alveolar ridge and high-arched palate []. Skeletal examination revealed post-axial as well as mesaxial (an extra digit between the middle digits) polydactyly of both hands and pre-axial polydactyly of both feet []. Other physical examination, findings were normal. Laboratory investigations including complete blood count (CBC), hepatic enzymes, blood urea nitrogen, creatinine, electrolytes, blood sugar and urine analysis were normal. Echocardiography, abdominal ultrasonography, especially of the kidney, ureter and bladder (KUB) region, and ophthalmological examination were found to be normal, except squint on the left side. X-ray of both hands documented mesaxial polydactyly as evident with Y-shaped metacarpal []. Magnetic resonance imaging showed hypoplasia of the cerebellar hemispheres and vermis and a narrowed isthmus of the mid brain with a characteristic “molar tooth appearance” []. The infant was discharged home and advised to attend the follow-up clinic.