A new syndrome with distinct facial and auricular malformations and dominant inheritance.
We report on a mother and son with high forehead; elongated and flattened face; arched, sparse eyebrows; short palpebral fissures; telecanthus; long nose and hypoplastic nostrils; long philtrum; microstomia; high, narrow palate; nasal speech; chin dimples; and a highly unusual bilateral auricular malformation. Intelligence and hearing are normal, and there is no "whistling" face or deviation of fingers. Although resembling in some ways the Freeman-Sheldon syndrome, this phenotype most likely represents a new malformation syndrome, either autosomal dominant or X-linked dominant.
Simosa
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Centro Nacional de Genética Humana y Experimental, Universidad Central de Venezuela, Caracas.
Penchaszadeh
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VB
Bustos
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D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004431:Ear, External / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010641:Phenotype; D013577:Syndrome