Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and "prehensile" halluces: a new syndrome?
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.
Day-Salvatore
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Division of Clinical Genetics, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School and St. Peter's Medical Center, New Brunswick 08903-0591, USA. daysalva@umdnj.edu
McLean
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D000328:Adult; D016569:Blepharophimosis / Q000150:complications* / Q000473:pathology; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000150:complications / Q000473:pathology; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital / Q000150:complications / Q000473:pathology; D006214:Hallux / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000150:complications / Q000473:pathology; D006330:Heart Defects, Congenital / Q000150:complications* / Q000473:pathology; D006801:Humans; D006869:Hydronephrosis / Q000150:complications* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D011247:Pregnancy; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome