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Oculo-auriculo-vertebral spectrum with craniosynostosis and osteo-cartilagineous multiple defects: a diffuse chondro-membranous-osteo-dysplasia

Agostino Berio, Giacomo Garlaschi, Giuseppe Mangiante, Attilia Piazzi
  • Agostino Berio
    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Mother-Child Sciences, School of Medicine, University of Genoa, Genoa, Italy | agostinoberio@ospedale-gaslini.ge.it
  • Giacomo Garlaschi
    Department of Health Sciences, School of Medicine, University of Genoa, Genoa, Italy
  • Giuseppe Mangiante
    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Mother-Child Sciences, School of Medicine, University of Genoa, Genoa, Italy
  • Attilia Piazzi
    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Mother-Child Sciences, School of Medicine, University of Genoa, Genoa, Italy

Abstract

We report on a female with oculo-auriculo-vertebral spectrum, low height, and on X-ray lambdoid suture synostosis, cerebral cyst/mild holoprosencephalia and cholesteatoma, and multiple abnormalities of bones of chondral origin. On the right side, maxillary, mandibular bones, external auditory canal, middle ear were hypoplastic as well as semicircular canal, cranial base, bones vestibule. On the left side, coclea, timpanic cavity, mastoid antrum were hypoplastic, while stapes was misshapen. Limbs bones were slender with thin metaphyses and some carpal bones were absent. Hand second phalanx was hypoplastic and fifth finger presented clynodactily. Lambdoid synostosis expressed membranous ossification abnormality. We hypothesize that during the blastogenesis a mutation of a factor responsible for abnormal generalized endochondral and connectival ossification (possibly fibroblast growth factor receptor) occurs.

Keywords

Oculo-auriculo-vertebral spectrum; Lambdoid synostosia; Osteocartilaginous defects; Fibroblast growth factor

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Submitted: 2015-08-19 14:32:12
Published: 2015-12-29 16:29:07
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Copyright (c) 2015 Agostino Berio, Giacomo Garlaschi, Giuseppe Mangiante, Attilia Piazzi

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