[Ectodermal dysplasia and exocrine pancreatic insufficiency--a familial syndrome].
A syndrome was observed in two sisters which was characterized by a median defect of the hair of the head, hypoplasia of the ala nasi, absence of the permanent teeth, microdontia of the deciduous teeth, and exocrine insufficiency of the pancreas. This syndrome is probably autosomal regressive; the symptoms are similar to those of Johanson-Blizzard syndrome.
D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D008260:Macroglossia / Q000150:complications; D008286:Malabsorption Syndromes / Q000209:etiology; D010182:Pancreatic Diseases / Q000235:genetics*; D010189:Pancreatic Juice / Q000378:metabolism*; D013577:Syndrome; D014071:Tooth Abnormalities
Ektodermale Dysplasie und exokrine Pankreasinsuffizienz--ein erblich bedingtes Syndrom.