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Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?
Am J Med Genet. 1993 Oct 01; 47(5):679-82.AJ

Abstract

We describe unrelated male and female patients with an identical syndrome of diaphragmatic hernia, exomphalos, hypertelorism, agenesis of the corpus callosum, severe sensorineural deafness, and severe myopia. One child had an iris coloboma. After the birth of the first affected child in each family subsequent pregnancies were monitored with ultrasound scan and a further affected fetus was identified in both families. We conclude that this constellation of anomalies represents a distinct, previously unreported syndrome with likely autosomal recessive inheritance.

Authors+Show Affiliations

Regional Genetic Service, St Mary's Hospital, Manchester, United Kingdom.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8266995

Citation

Donnai, D, and M Barrow. "Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, and Sensorineural Deafness: a Newly Recognized Autosomal Recessive Disorder?" American Journal of Medical Genetics, vol. 47, no. 5, 1993, pp. 679-82.
Donnai D, Barrow M. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? Am J Med Genet. 1993;47(5):679-82.
Donnai, D., & Barrow, M. (1993). Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? American Journal of Medical Genetics, 47(5), 679-82.
Donnai D, Barrow M. Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, and Sensorineural Deafness: a Newly Recognized Autosomal Recessive Disorder. Am J Med Genet. 1993 Oct 1;47(5):679-82. PubMed PMID: 8266995.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? AU - Donnai,D, AU - Barrow,M, PY - 1993/10/1/pubmed PY - 1993/10/1/medline PY - 1993/10/1/entrez SP - 679 EP - 82 JF - American journal of medical genetics JO - Am J Med Genet VL - 47 IS - 5 N2 - We describe unrelated male and female patients with an identical syndrome of diaphragmatic hernia, exomphalos, hypertelorism, agenesis of the corpus callosum, severe sensorineural deafness, and severe myopia. One child had an iris coloboma. After the birth of the first affected child in each family subsequent pregnancies were monitored with ultrasound scan and a further affected fetus was identified in both families. We conclude that this constellation of anomalies represents a distinct, previously unreported syndrome with likely autosomal recessive inheritance. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8266995/Diaphragmatic_hernia_exomphalos_absent_corpus_callosum_hypertelorism_myopia_and_sensorineural_deafness:_a_newly_recognized_autosomal_recessive_disorder L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=47&issue=5&spage=679 DB - PRIME DP - Unbound Medicine ER -