Osteoglophonic dysplasia: review and further delineation of the syndrome

American Journal of Medical Genetics
S Sklower BrooksR J Gorlin

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.

References

Jun 1, 1975·The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine·T E KeatsD E Sweet
Sep 1, 1989·Journal of Medical Genetics·P Beighton
Jun 1, 1988·European Journal of Pediatrics·H SantosA Torrado
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Citations

Aug 22, 2006·Orthodontics & Craniofacial Research·T S RobertsP Beighton
Jul 19, 2003·Clinical Dysmorphology·Emma L WakelingSusan E Holder
Oct 9, 2015·Pediatric Radiology·Atsuhiko HandaYasuyuki Kurihara

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