RESUMO
We report on a child with a unique constellation of congenital anomalies suggesting a new syndrome. These consist of developmental delay; craniofacial abnormalities, including bilateral cataracts, ptosis, median nasal groove, malformed ears with associated neurosensory hearing loss; dental anomalies consisting of anomalous cusp morphology with unusual pointed extensions and delayed tooth eruption; short stature with marked delay in epiphyseal ossification; coronal clefts involving vertebrae T11-S2; and dislocated hips. A literature search and use of a computer-assisted syndrome-identification program failed to uncover an identical case.
Assuntos
Anormalidades Múltiplas/classificação , Anormalidades Múltiplas/diagnóstico por imagem , Osso e Ossos/anormalidades , Anormalidades do Olho/classificação , Ossos Faciais/anormalidades , Feminino , Humanos , Lactente , Radiografia , Crânio/anormalidades , Síndrome , Anormalidades Dentárias/classificação , UltrassonografiaRESUMO
A case of spondylometepiphyseal dysplasia congenita, Strudwick type is presented. At birth, this condition cannot be distinguished from spondyloepiphyseal dysplasia congenita. Features in common include delayed ossification of the public bones and proximal femoral epiphyses, coxa vara, odontoid hypoplasia and lumbar lordosis. The distinguishing radiologic feature of this condition is the striking irregularity of long bone metaphyses which develops during infancy.
