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Documentation of anomalies not previously described in Fryns syndrome.
Am J Med Genet A. 2003 Jan 15; 116A(2):179-82; discussion 183.AJ

Abstract

We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns syndrome.

Authors+Show Affiliations

Department of Pathology, University of South Florida, and Tampa General Hospital, 33601, USA.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

12494439

Citation

Arnold, Sonya Rae, et al. "Documentation of Anomalies Not Previously Described in Fryns Syndrome." American Journal of Medical Genetics. Part A, vol. 116A, no. 2, 2003, pp. 179-82; discussion 183.
Arnold SR, Debich-Spicer D D, Opitz JM, et al. Documentation of anomalies not previously described in Fryns syndrome. Am J Med Genet A. 2003;116A(2):179-82; discussion 183.
Arnold, S. R., Debich-Spicer D, D., Opitz, J. M., & Gilbert-Barness, E. (2003). Documentation of anomalies not previously described in Fryns syndrome. American Journal of Medical Genetics. Part A, 116A(2), 179-82; discussion 183.
Arnold SR, et al. Documentation of Anomalies Not Previously Described in Fryns Syndrome. Am J Med Genet A. 2003 Jan 15;116A(2):179-82; discussion 183. PubMed PMID: 12494439.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Documentation of anomalies not previously described in Fryns syndrome. AU - Arnold,Sonya Rae, AU - Debich-Spicer D,Diane, AU - Opitz,John M, AU - Gilbert-Barness,Enid, PY - 2002/12/21/pubmed PY - 2003/5/13/medline PY - 2002/12/21/entrez SP - 179-82; discussion 183 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 116A IS - 2 N2 - We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns syndrome. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/12494439/Documentation_of_anomalies_not_previously_described_in_Fryns_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.10763 DB - PRIME DP - Unbound Medicine ER -