Abstract

The prevalence of skeletal dysplasia in the neonatal period is 2.4/10,000 births; it accounts for 1-2% of perinatal deaths, mainly stillbirths. A long bone measurement of less than -4 standard deviations is a definitive indication of skeletal dysplasia, whereas measurement between -2 and -4 standard deviations warrants detailed sonographic examination for other associated anomalies to arrive at a diagnosis. We report a case of oral-facial-digital syndrome type II that presented antenatally with polyhydramnios, short humerus, polydactyly, and duplicated thumb.

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