Craniometaphyseal Dysplasia Syndrome (Pyle Syndrome;
Familial Metaphyseal Dysplasia;
Bakwin-Krida Syndrome; Leontiasis Ossea) &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; &nbs 131h75b p; 314
General: Autosomal recessive; absorption of secondary spongiosa is lacking, with resulting long-bone deformities.
Ocular: Hypertelorism.
Clinical: Splaying of metaphyseal ends of long bones; thick and dense base of bony skull; absent air filling of mastoid process and paranasal sinuses; late dentition; deafness; progressive headache; vomiting; low intelligence; prominent glabella and zygomatic arch; genu valgus deformity.
Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.
Gupta D, et al. Craniometaphyseal dysplasia. Australas Radial 1993; 37:122-l25.
Pyle E. A case of unusual bone development. J Bone Joint Surg 1931:13:874.
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