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Am J Med Genet. 1995 Aug 28;58(2):113-4.

Apparently new "anophthalmia-plus" syndrome in sibs.

Author information

1
Center for Human Genetics, University of Leuven, Belgium.

Abstract

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.

PMID:
8533799
DOI:
10.1002/ajmg.1320580204
[Indexed for MEDLINE]

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