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10.1002/ajmg.1320510210.abs We describe a compound heterozygous Δ‐F508/Δ‐I507 cystic fibrosis patient. Molecular analysis by polymerase chain reaction (PCR)‐mediated site‐directed mutagenesis showed the 219 bp fragment observed in Δ‐F508 homozygotes. The father showed a Δ‐F508...
10.1002/ajmg.1320510205.abs We have carried out a follow‐up study of 13 children with Wiedemann‐Beckwith syndrome (WBS) using a standard protocol which included facial anthropometric measurements. We confirm that most patients with WBS do well and that their clinical abnormalities become less...
10.1002/ajmg.1320510211.abs We report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down‐slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut...
10.1002/ajmg.1320510215.abs We report on a 5‐month‐old girl with widely spaced nipples, redundant nuchal skin, coarctation of the aorta, anal atresia with distal fistula, postnatal growth retardation, hypotonia, and sparse scalp hair. Initial clinical assessment suggested the diagnosis of...
10.1002/ajmg.1320510212.abs Limb‐body wall complex is a malformation of body and limbs with craniofacial defects. We describe here the epidemiology of this complex using the population‐based registry data in the Kanagawa Birth Defects Monitoring Program during the period 1982–1991. Eleven...
10.1002/ajmg.1320510221.abs Branchio‐oto‐renal (BOR) syndrome is an autosomal dominant condition of branchial arch anomalies, deafness and renal dysplasia. Clinical manifestations tend to have considerable intrafamilial and interfamilial variability. Previous linkage studies had localized the...
10.1002/ajmg.1320510214.abs We report on a 15‐month‐old boy with a de novo deletion of the terminal band of 5q, macrocephaly, mild retrognathia, anteverted nares with low flat nasal bridge, telecanthus, minor earlobe anomalies, bell‐shaped chest, diastasis recti, short fingers, and mild...
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