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Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome.
Am J Med Genet. 1983 Mar; 14(3):461-6.AJ

Abstract

We report a brother and sister who died neonatally with a distinctive but variable multiple congenital anomaly (MCA) syndrome. Anomalies in both included similar facial changes, cleft palate, distal digital hypoplasia, lung hypoplasia, and urogenital abnormalities. They were discordant for cleft lip, diaphragmatic hernia, and Dandy-Walker anomaly. These sibs resemble three recently reported stillborn children and support the existence of a "new" autosomal recessive MCA syndrome with variable expressivity.

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Publisher Full Text

Authors

Lubinsky M
No affiliation info available
Severn C
No affiliation info available
Rapoport JM
No affiliation info available

MeSH

Abnormalities, MultipleCleft PalateFaceFemaleHumansInfant, NewbornKidneyLimb Deformities, CongenitalMaleSyndrome

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

6859098

Citation

Lubinsky, M, et al. "Fryns Syndrome: a New Variable Multiple Congenital Anomaly (MCA) Syndrome." American Journal of Medical Genetics, vol. 14, no. 3, 1983, pp. 461-6.
Lubinsky M, Severn C, Rapoport JM. Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. Am J Med Genet. 1983;14(3):461-6.
Lubinsky, M., Severn, C., & Rapoport, J. M. (1983). Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. American Journal of Medical Genetics, 14(3), 461-6.
Lubinsky M, Severn C, Rapoport JM. Fryns Syndrome: a New Variable Multiple Congenital Anomaly (MCA) Syndrome. Am J Med Genet. 1983;14(3):461-6. PubMed PMID: 6859098.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. AU - Lubinsky,M, AU - Severn,C, AU - Rapoport,J M, PY - 1983/3/1/pubmed PY - 1983/3/1/medline PY - 1983/3/1/entrez SP - 461 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 14 IS - 3 N2 - We report a brother and sister who died neonatally with a distinctive but variable multiple congenital anomaly (MCA) syndrome. Anomalies in both included similar facial changes, cleft palate, distal digital hypoplasia, lung hypoplasia, and urogenital abnormalities. They were discordant for cleft lip, diaphragmatic hernia, and Dandy-Walker anomaly. These sibs resemble three recently reported stillborn children and support the existence of a "new" autosomal recessive MCA syndrome with variable expressivity. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6859098/Fryns_syndrome:_a_new_variable_multiple_congenital_anomaly__MCA__syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1983&volume=14&issue=3&spage=461 DB - PRIME DP - Unbound Medicine ER -