Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. - Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele

Author:

Schoner Katharina1,Kohlhase Juergen2,Müller Annette M.3,Schramm Thomas4,Plassmann Margit5,Schmitz Ralf6,Neesen Juergen7,Wieacker Peter8,Rehder Helga17

Affiliation:

1. Institute of Pathology; Philipps-University Marburg; Germany

2. Center for Human Genetics; Freiburg Germany

3. Department of Pediatric Pathology; University Clinic Bonn; Germany

4. Prenatal-Medicine (MVZ); München Germany

5. Center for Prenatal Medicine; Dortmund Germany

6. Department of Gynecology and Obstetrics; University Münster; Germany

7. Institute of Medical Genetics; Medical University Vienna; Austria

8. Institute of Human Genetics; University Münster; Germany

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Reference32 articles.

1. A case of Peters syndrome with spontaneous corneal perforation;Krause;J Paediat Ophthalmol,1969

2. Peters'-plus: a new syndrome;Schooneveld;Ophthalmic Paediatr Genet,1984

3. Peters' anomaly as a consequence of genetic and nongenetic syndromes;Kivlin;Arch Ophthalmol,1986

4. Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome;Frydman;Am J Med Genet,1991

5. The Peters' plus syndrome: description of 16 patients and review of the literature;Hennekam;Clin Dysmorphol,1993

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