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Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and ?prehensile? halluces: A new syndrome?

✍ Scribed by Day-Salvatore, Debra; McLean, David

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 31 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981204)80:4<309::aid-ajmg2>3.0.co;2-j

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✦ Synopsis

We report on the prenatal ultrasound and postnatal findings in an infant born to a healthy, nonconsanguineous couple. The infant had microcephaly, telecanthus, blepharophimosis, cleft palate, micrognathia, abnormally modeled ears, hypoplastic left heart, hypoplastic radii and ulnae with radial subluxation, pseudoarthrotic distal humeri, fused metacarpals, tibial bowing, unusual feet with long halluces, hydronephrosis, patent urachus, abnormal electroencephalogram, and normal karyotype. To our knowledge, this combination of anomalies has not been recognized previously and may represent a new condition. Am.

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