Familial arhinia, choanal atresia, and microphthalmia.
We describe two females (aunt and niece) with variable manifestations of arhinia, choanal atresia, microphthalmia, and hypertelorism. In the literature there is only one report on this syndrome in sibs. We hypothesize autosomal dominant inheritance with reduced penetrance.
Thiele
H
H
Institut of Human Genetics, University of Halle/Wittenberg, Germany.
Musil
A
A
Nagel
F
F
Majewski
F
F
D000293:Adolescent; D001003:Anal Canal / Q000002:abnormalities*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008850:Microphthalmos / Q000235:genetics*; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree