Fryns syndrome: A lethal birth defect with variable phenotypic expressions in siblings

Indian Journal of Pediatrics

Volumn 81, Issue 6, 2014, Pages 614-616

  Arora, Kamaldeep ^a   Thukral, Anu ^a   Das, Rashmi Ranjan ^a   Gupta, Neerja ^a   Kabra, Madhulika ^a   Agarwal, Ramesh ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Craniofacial dysmorphism; Diaphragmatic hernia; Fryns syndrome; Limb hypoplasia

Indexed keywords

AMNIOCENTESIS; ARTICLE; ARTIFICIAL VENTILATION; AUTOPSY; BOCHDALEK HERNIA; BRAIN VENTRICLE DILATATION; CASE REPORT; CRANIOFACIAL MALFORMATION; DEXTROCARDIA; DIAPHRAGM HERNIA; ECHOCARDIOGRAPHY; ECHOGRAPHY; FRYNS SYNDROME; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPOPLASIA; INFANT; INTUBATION; KIDNEY HYPERTROPHY; LIMB HYPOPLASIA; LUNG HYPOPLASIA; MALE; OMPHALOCELE; PHENOTYPE; FACIES; FATALITY; GENETICS; LIMB MALFORMATION; NEWBORN;

FACIES; FATAL OUTCOME; HERNIA, DIAPHRAGMATIC; HUMANS; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; PHENOTYPE;

EID: 84902285518     PISSN: 00195456     EISSN: 09737693     Source Type: Journal    
DOI: 10.1007/s12098-013-1011-1     Document Type: Article

References (10)

1. Fryns JP. Fryns syndrome: A variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet. 1987;24:271-4. (Pubitemid 17091415)
2. Aymé S, Julian C, Gambarelli D, et al. Fryns syndrome: Report on 8 new cases. Clin Genet. 1989;35:191-201. (Pubitemid 19072770)
3. Dillon E, Renwick M. Antenatal detection of congenital diaphragmatic hernias: The Northern region experience. Clin Radiol. 1993;48:264-7. (Pubitemid 23304346)
4. Slavotinek AM. Fryns syndrome: A review of the phenotype and diagnostic guidelines. Am J Med Genet. 2004;124A:427-33. (Pubitemid 38141391)
5. Alessandri L, Brayer C, Attali T, et al. Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. Genet Couns. 2005;16:363-70.
6. Van Hove JLK, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, Iafolla K, Kahler SG. Fryns syndrome survivors and neurologic outcome. Am J Med Genet. 1995;59:334-40.
7. 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.
8. Aboud MJ, Al-Shamsy MM. Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia. Pediatr Surg Int. 2011;27:567-71.
9. Slavotinek A, Lee SS, Davis R, et al. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet. 2005;42:730-6. (Pubitemid 41306065)
10. Sheffield JS, Twickler DM, Timmons C, Land K, Harrod M, Ramus RM. Fryns syndrome: prenatal diagnosis and pathologic correlation. J Uttrasound Med. 1998;17:585-9. (Pubitemid 28397578)