Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands.
We report a family with two consequent sibs with anophthalmia and cleft lip and palate. A 27 year old woman married to her first cousin was counseled for anophthalmia and cleft lip and palate detected during routine fetal ultrasonographic examination on the 23rd week of the pregnancy. Her obstetric history revealed a healthy girl aged 7 years and a boy with anophthalmia and cleft lip and palate who lived for 20 days in the neonatal intensive care unit. The current pregnancy was terminated after the diagnosis, and post mortem examination of the fetus revealed pre-maxilla agenesis, anophthalmia, cerebral ventricular dilatation, adrenal hypoplasia and single umbilical artery. Chromosome analysis resulted in normal karyotypes of the fetus and both parents. The inheritance pattern was regarded as autosomal recessive and the family was informed about the condition and risks during genetic counseling.
Baskent University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.
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O
Ozalp
E E
EE
Ozcimen
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Z
Yilmaz
F
F
Yanik
F I
FI
Sahin
D000028:Abortion, Induced; D000311:Adrenal Glands / Q000002:abnormalities*; D000328:Adult; D000853:Anophthalmos / Q000150:complications / Q000235:genetics*; D002971:Cleft Lip / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D002972:Cleft Palate / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005817:Genetic Counseling; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D013577:Syndrome