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[Fryns syndrome. Description of a case].
Pathologica. 1993 Mar-Apr; 85(1096):233-9.P

Abstract

We report on a female infant who presents a pattern of malformations including dysmorphic facies, Dandy-Walker anomaly, hypoplasia of the upper lobe of the right lung, associated with diaphragmatic elevation and slight digital anomalies. This whole clinical picture allows us to formulate the diagnosis of Fryns syndrome; this is one of the very few not lethal cases that are reported in literature.

Authors+Show Affiliations

Ficcadenti A
Istituto di Clinica Pediatrica, l'Università di Ancona.
Lorenzini L
No affiliation info available
Brocani P
No affiliation info available
Celani P
No affiliation info available
Kantar A
No affiliation info available
Chiaramoni L
No affiliation info available
Gabrielli O
No affiliation info available

MeSH

Abnormalities, MultipleDiaphragmFaceFemaleFingersHumansInfant, NewbornLungSyndrome

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ita

PubMed ID

8361787

Citation

Ficcadenti, A, et al. "[Fryns Syndrome. Description of a Case]." Pathologica, vol. 85, no. 1096, 1993, pp. 233-9.
Ficcadenti A, Lorenzini L, Brocani P, et al. [Fryns syndrome. Description of a case]. Pathologica. 1993;85(1096):233-9.
Ficcadenti, A., Lorenzini, L., Brocani, P., Celani, P., Kantar, A., Chiaramoni, L., & Gabrielli, O. (1993). [Fryns syndrome. Description of a case]. Pathologica, 85(1096), 233-9.
Ficcadenti A, et al. [Fryns Syndrome. Description of a Case]. Pathologica. 1993 Mar-Apr;85(1096):233-9. PubMed PMID: 8361787.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Fryns syndrome. Description of a case]. AU - Ficcadenti,A, AU - Lorenzini,L, AU - Brocani,P, AU - Celani,P, AU - Kantar,A, AU - Chiaramoni,L, AU - Gabrielli,O, PY - 1993/3/1/pubmed PY - 1993/3/1/medline PY - 1993/3/1/entrez SP - 233 EP - 9 JF - Pathologica JO - Pathologica VL - 85 IS - 1096 N2 - We report on a female infant who presents a pattern of malformations including dysmorphic facies, Dandy-Walker anomaly, hypoplasia of the upper lobe of the right lung, associated with diaphragmatic elevation and slight digital anomalies. This whole clinical picture allows us to formulate the diagnosis of Fryns syndrome; this is one of the very few not lethal cases that are reported in literature. SN - 0031-2983 UR - https://www.unboundmedicine.com/medline/citation/8361787/[Fryns_syndrome__Description_of_a_case]_ L2 - http://www.diseaseinfosearch.org/result/2955 DB - PRIME DP - Unbound Medicine ER -