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10.1002/ajmg.1320530315.abs We report on a male infant with oral, facial, digital, and skeletal anomalies in association with severe psychomotor delay. This may represent a new oral‐facial‐digital syndrome. © 1994 Wiley‐Liss, Inc.
10.1002/ajmg.1320530306.abs The dermatoglyphic patterns of fingertips and palms of 115 patients with Williams‐Beuren syndrome (WBS) were analysed and compared with the data from 199 control individuals from Germany. The following combination of dermatoglyphic patterns appears to be...
10.1002/ajmg.1320530309.abs The association of congenital muscular dystrophy (CMD) with type II lissencephaly and ocular anomalies is found in Fukuyama CMD (FCMD), the Walker‐Warburg syndrome (WWS), and muscle‐eye‐brain disease (MEBD). The classification of these disorders remains...
10.1002/ajmg.1320530314.abs The so‐called “conotruncal anomaly face syndrome” (CTAFS) is characterized by a peculiar facial appearance associated with congenital heart disease (CHD), especially cardiac outflow tract defects such as tetralogy of Fallot (TOF), double outlet right ventricle...
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