Fryns syndrome: A lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins

Singapore Medical Journal

Volumn 48, Issue 4, 2007, Pages

  Pratap, Akshay ^a   Agrawal, A ^a   Raja, S ^a   Khaniya, S ^a   Tiwari, A ^a   Kumar, A ^a  

^a BP Koirala Institute of Health Sciences ^*  (Nepal)

Author keywords

Congenital diaphragmatic hernia; Craniofacial dysmorphism; Fryns syndrome; Limb hypoplasia; Monozygotic twins

Indexed keywords

ARTICLE; BIRTH DEFECT; CASE REPORT; DIAPHRAGM HERNIA; ECHOCARDIOGRAPHY; ECHOGRAPHY; FACE DYSMORPHIA; FRYNS SYNDROME; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPOPLASIA; MALE; MONOZYGOTIC TWINS; NEWBORN; CONGENITAL MALFORMATION; FACIAL BONE; FATALITY; GENETICS; HEART SEPTUM DEFECT; LIMB MALFORMATION; MULTIPLE MALFORMATION SYNDROME; SYNDROME; TWINS;

ABNORMALITIES, MULTIPLE; DISEASES IN TWINS; FACIAL BONES; FATAL OUTCOME; HEART SEPTAL DEFECTS; HERNIA, DIAPHRAGMATIC; HUMANS; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; SYNDROME; TWINS, MONOZYGOTIC;

EID: 34247894102     PISSN: 00375675     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Meinecke P, Fryns JP. The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. Clin Genet 1985; 28:516-20.
2. Vargas JE, Cox GF, Korf BR. Discordant phenotype in monozygotic twins with Fryns syndrome. Am J Med Genet 2000; 9:42-5.
3. Comment in: Am J Med Genet 2001; 102:306-7.
4. Fryns JP, Moerman F, Goddeeris P, Bossuyt C, Van den Berghe H. A new lethal syndrome with cloudy cornea, diaphragmatic defects and distal limb deformities. Hum Genet 1979; 50:65-70.
5. Samueloff A, Navot D, Birkenfeld A, Schenker JG. Fryns syndrome: a predictable, lethal pattern of multiple congenital anomalies. Am J Obstet Gynecol 1987; 156:86-8.
6. Pinar H, Carpenter MW, Abuelo D, Singer DB. Fryns syndrome: a new definition. Pediatr Pathol 1994; 14:467-78.
7. Bamforth JS, Leonard CO, Chodirker BN, et al. Congenital diaphragmatic hernia, coarse facies and acral hypoplasia: Fryns syndrome. Am J Med Genet 1989; 32: 93-9.
8. Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H. Variability in the phenotypic expression of Fryns syndrome: a report of two sibships. Am J Med Genet 2000; 95:415-24.
9. Willems PJ, Keersmaekers GHA, Dom KE, et al. Fryns syndrome without diaphragmatic hernia? Am J Med Genet 1991; 41:255-7.
10. Vasudevan PC, Stewart H. A case of Fryns syndrome without diaphragmatic hernia and review of the literature. Clin Dysmorphol 2004; 13:179-82.
11. Wilgenbus KK, Engers R, Crombach G, Majewski F. Two fetuses with Fryns syndrome without diaphragmatic defects. J Med Genet 1994; 31:962-4.
12. Gadow EC, Lippold S, Serafin E, et al. Prenatal diagnosis and long survival of Fryns' syndrome. Prenat Diagn 1994; 14:673-6.
13. Comment in: Prenat Diagn 1995; 15:97-8.