DOOR SYNDROME (DEAFNESS, ONYCHO-OSTEODYSTROPHY, AND MENTAL-RETARDATION) - A NEW PATIENT AND DELINEATION OF NEUROLOGIC VARIABILITY AMONG RECESSIVE CASES

We report the seventeenth case of the recessive form of the DOOR syndr ome. The parents were Guatemalan and not known to be consanguineous. T he patient had developmental delay, severe sensorineural deafness, and abnormal nails and phalanges in the hands and feet. Urinary 2-oxoglut arate excretion was normal. The patient was among a subset of DOOR syn drome patients without seizures in infancy. This observation may be us eful in discussing the prognosis for newly identified cases. (C) 1993 Wiley-Liss, Inc.