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. 2013:2013:364529.
doi: 10.1155/2013/364529. Epub 2013 Jul 29.

Prenatal diagnosis of fetal peters' plus syndrome: a case report

Neerja Gupta  1 , Anita Kaul, Madhulika Kabra
Affiliations

Prenatal diagnosis of fetal peters' plus syndrome: a case report

Neerja Gupta et al. Case Rep Genet. 2013.

Abstract

Peters' plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters' plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a clue to the diagnosis that was confirmed later on by the DNA analysis.

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Figures

Figure 1
Figure 1
(a) Proband with Peters' anomaly and facial dysmorphism. (b) Ultrasound showing, long philtrum, short nose and ventriculomegaly. (c) Fetus with facial dysmorphism. Note prominent forehead, hypertelorism, long philtrum, short nose, anteverted nostrils, and thin upper lip.
Figure 2
Figure 2
It shows electropherogram of father, mother, proband, and the fetus. Reference is the reference sequence of the B3GALTL gene. The region shown is the beginning of intron 8.
See this image and copyright information in PMC

References

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