Discordant phenotype in monozygotic twins with Fryns syndrome

American Journal of Medical Genetics

Volumn 94, Issue 1, 2000, Pages 42-45

  Vargas, Juan E ^a   Cox, Gerald F ^a   Korf, Bruce R ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD INSTITUTES OF MEDICINE   (United States)

Author keywords

Diaphragmatic hernia; Fryns syndrome; Monozygotic twins

Indexed keywords

ARTICLE; CASE REPORT; DIAPHRAGM HERNIA; FRYNS SYNDROME; HUMAN; HYPOPLASIA; INFANT; MACROCEPHALY; MALE; MONOZYGOTIC TWINS; PHENOTYPE; PRIORITY JOURNAL; RIB MALFORMATION; THORAX RADIOGRAPHY; TWIN DISCORDANCE; ZYGOSITY;

HERNIA, DIAPHRAGMATIC; HUMANS; INFANT, NEWBORN; MALE; PHENOTYPE; SYNDROME; TWIN STUDIES; TWINS, MONOZYGOTIC;

EID: 0034605366     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000904)94:1<42::AID-AJMG9>3.0.CO;2-6     Document Type: Article

References (16)

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2. Fryns syndrome: Two further cases without lateral diaphragmatic defects
3. Current surgical management of congenital diaphragmatic hernia, a report from the Congenital Diaphragmatic Hernia Study Group
4. Fryns syndrome: An autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia
5. Antenatal detection of congenital diaphragmatic hernias: The northern experience
6. A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities
7. A new sublethal syndrome with multiple malformations associating diaphragmatic hernia, distal digital hypoplasia, and craniofacial anomalies: The 'Fryns syndrome'
8. Prenatal diagnosis and long survival of Fryns syndrome
9. Fryns syndrome: Another example of non lethal outcome with sever mental handicap
10. Correlations of placental vascular anatomy and clinical outcomes in 69 monochorionic twin pregnancies
11. Epidemiological study of congenital diaphragmatic defects with special references to aetiology
12. Monozygotic twinning and structural defects
13. Fryns syndrome survivors and neurologic outcome
14. Two fetuses with Fryns syndrome without diaphragmatic defects
15. Congenital diaphragmatic hernia - A tale of two cities: The Boston experience
16. Phenotypic discordance in monozygotic twins with 22q11.2 deletion