Apparently new "anophthalmia-plus" syndrome in sibs.
The index patient of this report is a 17-week-gestation female fetus with bilateral anophthalmia, bilateral cleft lip/cleft palate, macrotia with bilateral lateral facial cleft, large open sacral neural tube defect, and uterus unicornis. Parents were normal and nonconsanguineous with an unremarkable family history. Their first child, a 4-year-old boy, is normal. The second child, a 2 1/2-year-old boy, has bilateral anophthalmia and an abnormal left ear with absent lobule as the sole additional anomaly. These 2 sibs seem to be the first examples of a new "anophthalmia-plus" syndrome apparently inherited as autosomal-recessive.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
Legius
E
E
Moerman
P
P
Vandenberghe
K
K
Van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D000853:Anophthalmos / Q000235:genetics*; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis