title: Oculo-auriculo-vertebral spectrum with craniosynostosis and osteo-cartilagineous multiple defects: a diffuse chondro-membranous-osteo-dysplasia.
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.
authors.affiliation: Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Mother-Child Sciences, School of Medicine, University of Genoa, Genoa. agostinoberio@ospedale-gaslini.ge.it.
authors.forename: Agostino
authors.initials: A
authors.lastname: Berio
authors.forename: Giacomo
authors.initials: G
authors.lastname: Garlaschi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Mangiante
authors.forename: Attilia
authors.initials: A
authors.lastname: Piazzi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D003398:Craniosynostoses / Q000235:genetics / Q000473:pathology*; D005260:Female; D006053:Goldenhar Syndrome / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007231:Infant, Newborn; D008213:Lymphocyte Activation / Q000235:genetics; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics / Q000503:physiopathology*