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Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins.
Singapore Med J. 2007 Apr; 48(4):e106-8.SM

Abstract

We report a pair of twins with variable expressions of Fryns syndrome, both of whom died in the neonatal period. The syndrome is characterised by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. With this report, there are a total of 83 cases reported in the literature and this further serves to illustrate the clinical variability of this disorder.

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Authors+Show Affiliations

Pratap A
Department of Surgery, BP Koirala Institute of Health Sciences, Dharan, Nepal. akshay_pratap2000@yahoo.co.in
Agrawal A
No affiliation info available
Raja S
No affiliation info available
Khaniya S
No affiliation info available
Tiwari A
No affiliation info available
Kumar A
No affiliation info available

MeSH

Abnormalities, MultipleDiseases in TwinsFacial BonesFatal OutcomeHeart Septal DefectsHernia, DiaphragmaticHumansInfant, NewbornLimb Deformities, CongenitalMaleSyndromeTwins, Monozygotic

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17384863

Citation

Pratap, A, et al. "Fryns Syndrome: a Lethal Mesoectodermal Birth Defect With Variable Expression in a Pair of Monozygotic Twins." Singapore Medical Journal, vol. 48, no. 4, 2007, pp. e106-8.
Pratap A, Agrawal A, Raja S, et al. Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins. Singapore Med J. 2007;48(4):e106-8.
Pratap, A., Agrawal, A., Raja, S., Khaniya, S., Tiwari, A., & Kumar, A. (2007). Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins. Singapore Medical Journal, 48(4), e106-8.
Pratap A, et al. Fryns Syndrome: a Lethal Mesoectodermal Birth Defect With Variable Expression in a Pair of Monozygotic Twins. Singapore Med J. 2007;48(4):e106-8. PubMed PMID: 17384863.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins. AU - Pratap,A, AU - Agrawal,A, AU - Raja,S, AU - Khaniya,S, AU - Tiwari,A, AU - Kumar,A, PY - 2007/3/27/pubmed PY - 2007/5/4/medline PY - 2007/3/27/entrez SP - e106 EP - 8 JF - Singapore medical journal JO - Singapore Med J VL - 48 IS - 4 N2 - We report a pair of twins with variable expressions of Fryns syndrome, both of whom died in the neonatal period. The syndrome is characterised by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. With this report, there are a total of 83 cases reported in the literature and this further serves to illustrate the clinical variability of this disorder. SN - 0037-5675 UR - https://www.unboundmedicine.com/medline/citation/17384863/Fryns_syndrome:_a_lethal_mesoectodermal_birth_defect_with_variable_expression_in_a_pair_of_monozygotic_twins_ L2 - http://smj.sma.org.sg/4804/4804cr3.pdf DB - PRIME DP - Unbound Medicine ER -