CASE REPORT: OTO-PALATO-DIGITAL SYNDROME TYPE I

DamliA., Laufs E., Volger S., Gotte R.

Department of Pediatrics. St. Joseph Klinik. Berlin. Germany

OPD was first described in 1967 by Dubbing et al. We present a rare case of OPD type I with severe laryngotracheomalacia and severe gastro-oesophageal reflux. The index patient (mother from Morocco, father from Iran) presents typical symptoms of OPD type I: hypertelorism. prominent forehead, flattened nasal bridge, medial cleft palate, retrogenia, wide space between digit I and II. Furthermore there are typical sceletal changes like: short os metacarpale I. pelvic dysplasia, low height of vertebrae and scoliosis of the thoracic vertebrae. He had multiple episodes of otitis media and has impairment of the hearing (proven clinically and with oto-acustic-emissions as well as acustically evoced brainstem potentials). The patient is now 5 month old; growth and weight are retarded and correspond to P3. statomotoric development is retarded and corresponds to an age of 2-4 month. Several cynotic attaks within the first months of life were due to laryngo-tracheomalacia and cardiachalasia with gastro-oesophageal reflux. Symptomatic therapy and operative closure of the cleft palate have improved the clinical symptoms. This is a spontanous case of OPD Type I with impressing features. additional findings and recurrent severe lifethreatening events, that have not been described before with this syndrome. References: Dudding B et al. Am J dis child 1967 Feb; 113(2):214-21 The roentgenographic features of the oto-palato-digital syndrome. Am J Roentgenol Radium ther 1967 May: 100(1):63-67 Horn D et al, Oto-palato-digital syndrome with features of type I and II in brothers. Genet Couns 1995;6(3):233-240