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• W2074007851 abstract "Familial metaphyseal dysplasia (Pyle's disease), characterized by idiopathic symmetrical metaphyseal splaying of the tubular bones, has been considered one of the rarest of the generalized osseous dysp1asias. Pyle's patient, described in 1931 (1), and a sibling with identical findings described by Bakwin and Krida in 1937 (2), were generally regarded as unique in the annals of medical reporting for nearly twenty years. Recent observations, however, indicate that the disorder is not as rare as was previously supposed and that strikingly characteristic cranial manifestations may accompany the metaphyseal splaying. Our purpose in presenting this paper is to report 3 cases of combined cranial-metaphyseal dysplasia and to suggest that this disorder represents a distinct clinical and roentgenologic entity worthy of more widespread recognition than it has been accorded in the past. Among the more significant recent contributions bearing upon this disorder is that of Neuhauser, who in his 1952 Caldwell Lecture (3) called attention to cranial abnormalities in a case of familial metaphyseal dysplasia, noting the similarity to the skull defects sometimes seen in polyostotic fibrous dysplasia. In 1953 Hermel, Gershon-Cohen, and Jones (4) described a brother and sister with truly spectacular metaphyseal dysplasia. Sinuses and mastoids were found to be incompletely pneumatized in the brother, for whom roentgenograms of the skull were obtained, but no other cranial abnormalities were evident. Perhaps the most important recent report is that of Halliday (5), who in 1949 described a rare case of bone dystrophy in a nine-year-old girl with splayed long bones and extraordinary hyperostosis of various portions of the skull. Since the cranial abnormalities predominated in this patient, the metaphyseal dysplasia was not emphasized, but the unusual nature of the case was fully appreciated and exhaustive clinical investigation was eventually followed by detailed postmortem examination. The clinical and roentgenologic findings in Halliday's case are virtually identical with those in the 3 cases to be recorded here, cranial deformities being outstanding features in all instances. Case Reports CASE 1: J. V., an 8-year-old white boy (born Jan. 27, 1944) was admitted to the University of Michigan Hospital on July 13, 1952, and again on June 29, 19.53. Gestation and delivery had been uneventful, and the child had appeared normal at birth and in early infancy, during which time bottle feedings were adequately supplemented by vitamins. At the age of seven months, the parents noted marked lateral nystagmus of both eyes, excessive tear formation, inability to use the facial muscles for laughing or crying, and a tendency to nasal obstruction. No treatment was prescribed at this time. In general, growth and development were normal." @default.
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• W2074007851 date "1956-03-01" @default.
• W2074007851 modified "2023-10-14" @default.
• W2074007851 title "Cranial Manifestations of Familial Metaphyseal Dysplasia" @default.
• W2074007851 cites W1930058975 @default.
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• W2074007851 doi "https://doi.org/10.1148/66.3.335" @default.
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