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10.1002/ajmg.1320400215.abs The urofacial syndrome is an autosomal recessive disorder of distorted facial expression and neurogenic bladder with resultant urogenital tract damage. We report on an 8‐year‐old boy of consanguineous Arab parents with inverted facial expression upon laughing and...
10.1002/ajmg.1320400205.abs A patient with intrauterine growth retardation and marked postnatal retardation of growth had microcephaly and the orofacial and dental characteristics of the Seckel phenotype. In addition she had short forearms, metaphyseal flare, especially of the distal femora,...
10.1002/ajmg.1320400214.abs We report on an infant, born to a diabetic mother, who presented with hypocalcemia and congenital heart disease, presurgically diagnosed by echocardiography as truncus arteriosus type I. Cytogenetic analysis showed a 45,X, −Y, −22, + der‐(Y)t(Y;22) (p11.3q11.2)...
10.1002/ajmg.1320400220.abs Peripheral blood lymphocytes from boxer dogs with a history of cutaneous mast cell tumors were cultured for fragile site expression. As in a control group of dogs, cells from these dogs expressed folate‐sensitive autosomal and X chromosome fragile sites. Cells from...
10.1002/ajmg.1320400217.abs Occipitofrontal circumference (OFC) was strongly correlated with height in 72 normal Caucasian men (r = 0.28, P = 0.018) and 78 women (r = 0.53, P < 0.0001). OFC : height ratios were approximately normally distributed in each sex with a mean of 0.326 (standard...
10.1002/ajmg.1320400211.abs Attributable fraction, the fraction of cases of a disease in a population attributed to a particular risk factor, is a useful measure in the design and interpretation of epidemiologic studies of disease etiology. We review here the applications of the concept of...
10.1002/ajmg.1320400213.abs Multiple cases of posterior helical ear pits (PHEP) with apparent autosomal dominant inheritance in a very large family are reported. There are at least 2 cases of Wiedemann‐Beckwith syndrome (WBS) within this family. Three other instances of familial PHEP and/or WBS...
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