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- W2093670396 abstract "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. J. Med. Genet. 80:309–313, 1998. © 1998 Wiley-Liss, Inc." @default.
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- W2093670396 date "1998-12-04" @default.
- W2093670396 modified "2023-10-18" @default.
- W2093670396 title "Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and ?prehensile? halluces: A new syndrome?" @default.
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- W2093670396 doi "https://doi.org/10.1002/(sici)1096-8628(19981204)80:4<309::aid-ajmg2>3.0.co;2-j" @default.
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