title: Osteoglophonic dysplasia: review and further delineation of the syndrome.
abstract: We report on a boy with clinical and radiologic findings of osteoglophonic dysplasia. He had craniostenosis, "bizarre," expansile cystic lesions in the diaphyses, delayed tooth eruption, and progressive rib expansion typical of the syndrome. Initially delayed psychomotor development with later normal intelligence, early feeding and breathing difficulty, and speech delay are also characteristic of the disorder. Manifestations, not previously reported in osteoglophonic dysplasia, present in the propositus are spontaneous fractures resulting in pseudoarthroses through cystic and dysplastic foci in his proximal femoral shafts and right humerus, pretibial dimples, hypospadias, marked rib expansion, and absence of significant vertebral abnormality. These findings expand the spectrum of osteoglophonic dysplasia.
authors.affiliation: NYS Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.
authors.forename: S
authors.initials: S
authors.lastname: Sklower Brooks
authors.forename: G
authors.initials: G
authors.lastname: Kassner
authors.forename: Q
authors.initials: Q
authors.lastname: Qazi
authors.forename: M J
authors.initials: MJ
authors.lastname: Keogh
authors.forename: R J
authors.initials: RJ
authors.lastname: Gorlin
mesh_terms: D001848:Bone Diseases, Developmental / Q000150:complications / Q000235:genetics; D003072:Cognition Disorders / Q000209:etiology; D003394:Craniofacial Dysostosis / Q000150:complications / Q000235:genetics; D005598:Fractures, Spontaneous / Q000209:etiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome