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10.1002/ajmg.1320440308.abs Sling left pulmonary artery (SLPA) is often associated with tracheobronchial abnormalities, including bridging bronchus (BB). We report on 3 patients with SLPA: One patient had a narrow trachea, absent right upper lobe and right main bronchus, and BB. The second...
10.1002/ajmg.1320440304.abs Recently published reports of 54 subjects with the amniotic band syndrome (ABS) were reviewed, paying particular attention to internal anomalies. Evidence from the internal anomalies suggests that in most cases reviewed, damage occurred in a definable time period,...
10.1002/ajmg.1320440316.abs We studied 2 sibs, born to consanguineous parents, who presented with an MCA pattern which includes low birthweight, tracheo‐esophageal fistula, duodenal atresia, extrahepatic biliary atresia, hypoplastic pancreas, and hypospadias. This constellation of congenital...
10.1002/ajmg.1320440318.abs The spontaneous occurrence of triplets is rare. With increased utilization of “assisted reproductive technologies,” multifetal gestations have become more common. The empiric fetal risk for major malformation is ∼ 3%. In a triplet pregnancy each fetus...
10.1002/ajmg.1320440302.abs Two infants with cystic kidney dysplasia and polydactyly were born to consanguineous parents. One infant died at age 2 months, and the other is currently 3.5 years old. A third pregnancy was terminated following ultrasonographic visualization of large echodense fetal...
10.1002/ajmg.1320440311.abs Asymmetry can be either directional or fluctuating. Detection of abnormal amounts of asymmetry has important implications for clinical diagnosis, but measurement of subtle levels is very difficult. We describe a method and normative values for asymmetry quantification...
10.1002/ajmg.1320440313.abs A child with manifestations of acrogeria and metageria, two “premature aging” syndromes, is presented. Because of his indistinct phenotype and because the question has been previously raised as to whether these conditions are separate, we propose the designation of...
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