An excellent recent publication has catalogued more than 100 syndromes affecting chiefly the head and neck (7). These sign and symptom complexes occur infrequently, but as a group they represent an important segment of medicine. Their recognition and correct diagnosis are important, particularly for the prognostic and possible genetic implications. In addition, clear delineation of a disease entity and its clinical spectrum is a requisite for serious consideration of etiology. Because of the similarity in facial appearance of some patients with different syndromes, confusion has developed which has tended to retard progress in correctly categorizing several disease entities. This communication is designed to emphasize the role of roentgen analysis as a complement to the clinical diagnosis of these rare syndromes, features of which, particularly in infancy, may appear to be limited largely to the head. Two cases, one of the oculodentodigital syndrome, the other of the Hallermann-Streiff syndrome, will be reported with emphasis on the roentgen features in infancy. In spite of the clinical similarities of these diseases, a clear roentgen differentiation can be made. Case Reports Oculodentodigital Syndrome K. B., a 5-day-old white female, was admitted to the Indiana University Medical Center because of low birth weight (4 lb.) and peculiar facies. She was the second of nonidentical twins; the other, a female, weighed 5 lb., 3 oz., and was apparently well. The mother, aged thirty-one, had no prenatal care, but there were no apparent complications during the period of gestation. Menstrual history was vague, so the exact gestational age could not be determined. The mother's health was good, and there was no apparent evidence of physical abnormality. The only drugs reportedly used during gestation were proprietary analgesics, cold remedies, and the like, although contraceptive jelly had been employed intermittently at about the time of conception. Legal paternity of both twins was excluded by genotyping; there are reported to be at least 14 half-siblings, 5 maternal and 9 paternal, living and well. There is no known consanguinity between the true parents. Admission vital signs were: pulse 132, respirations 32, temperature 98.2°F., weight 3 lb., 12 1/2 oz. The cry was feeble, and the patient responded poorly to external stimuli. The skin had a yellowish tint. The occipitofrontal circumference was 29.8 cm. Physiognomy was unusual with a “bird-like” nose, small lower jaw, but no obvious ear abnormalities (Fig. 1, A and B). The palpebral fissures were small and difficult to open. There was bilateral microphthalmia, the corneas each measured 6 mm in diameter, and the sclerae were white. The skin was extremely thin, especially over the skull where the veins were easily seen. The chest and abdomen were not remarkable. Cutaneous webbing of the fourth and fifth fingers of both hands was present, partial on the right.
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Kurlander et al. (1966) studied this question.