Short humerus: an additional antenatal sonographic feature of OFDS type II.
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.
Pradhan
Mandakini
M
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Rae Bareli Road, Lucknow, UP, India 226014, USA.
Sankar
Hariharan
H
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000328:Adult; D003025:Clubfoot / Q000150:complications / Q000175:diagnosis; D005145:Face / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006214:Hallux / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D006811:Humerus / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D007231:Infant, Newborn; D009056:Mouth Abnormalities / Q000150:complications; D017689:Polydactyly / Q000150:complications / Q000175:diagnosis; D006831:Polyhydramnios / Q000175:diagnosis; D011247:Pregnancy; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal / Q000379:methods*