We report a boy with a nasal deformity, choanal atresia, bifid uvula, severe bilateral microphthalmia and a facial cleft who showed regression of development at the age of 2 years with subsequent improvement. We suggest he represents a further case of the rare Fryns "Anophthalmia-Plus" syndrome.
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Prenatal Ultrasound Diagnosis of Congenital Diaphragmatic Hernia in a Fetus With Fryns "Anophthalmia-Plus" Syndrome: A Case Report.
Cureus
August 2024
1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Athens, GRC.
Article Synopsis
- * A new case of Fryns "anophthalmia-plus" syndrome was diagnosed in a 41-year-old pregnant woman, showing serious fetal conditions through ultrasound at 22 weeks of gestation.
- * Following genetic counseling and the absence of chromosomal abnormalities, the parents decided to terminate the pregnancy due to the severe issues identified.
Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities. Here we present two different cases of APS with anopthalmia/microphthalmia, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before.
View Article and Find Full Text PDFAnophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature.
Genet Couns
January 2014
Department of Medical Genetics, Ataturk University, Erzurum, Turkey.
We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal atresia, a sunken facial appearance, microphthalmia in the right eye, severe microphthalmia in the left eye, bilateral low-set ears, scarring from cleft palate surgery. Magnetic resonance imaging (MRI) sections revealed decreased right globe volume, an undeveloped left globe, decreased left optical nerve thickness, Chiari type 2 malformation, left choanal atresia and cleft palate.
View Article and Find Full Text PDFFryns anophthalmia-plus syndrome in an 18-week-old fetus.
Pediatr Dev Pathol
May 2012
Department of Paidopathology, University of Bonn, Bonn, Germany.
Fryns anophthalmia-plus syndrome is a very rare condition initially described by Fryns and colleagues in 1995 in a pair of siblings of nonconsanguineous parents. Since that time, only a few cases have been reported, most of them in newborns and young children. Clinical presentation is variable and includes anophthalmia/microphthalmia, cleft lip/palate, and other facial deformities.
View Article and Find Full Text PDFFryns anophthalmia-plus syndrome with hypoplastic adrenal glands.
Genet Couns
September 2008
Baskent University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.
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.
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