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Craniomicromelic syndrome: a newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation.
Am J Med Genet. 1995 Sep 25; 58(4):348-52.AJ

Abstract

We report on two sisters with an unusual form of craniosynostosis, protruding nasal spine, micrognathia, short limbs, lung hypoplasia, absent or hypoplastic gallbladder, short intestine with ileal distention, hypoplastic uterus, and intrauterine growth retardation. This combination of defects appears to be a newly recognized and probably autosomal recessive disorder.

Authors+Show Affiliations

Department of Pediatrics, University of Michigan, Ann Arbor 48109, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

8533844

Citation

Barr, M, et al. "Craniomicromelic Syndrome: a Newly Recognized Lethal Condition With Craniosynostosis, Distinct Facial Anomalies, Short Limbs, and Intrauterine Growth Retardation." American Journal of Medical Genetics, vol. 58, no. 4, 1995, pp. 348-52.
Barr M, Heidelberger KP, Comstock CH. Craniomicromelic syndrome: a newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation. Am J Med Genet. 1995;58(4):348-52.
Barr, M., Heidelberger, K. P., & Comstock, C. H. (1995). Craniomicromelic syndrome: a newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation. American Journal of Medical Genetics, 58(4), 348-52.
Barr M, Heidelberger KP, Comstock CH. Craniomicromelic Syndrome: a Newly Recognized Lethal Condition With Craniosynostosis, Distinct Facial Anomalies, Short Limbs, and Intrauterine Growth Retardation. Am J Med Genet. 1995 Sep 25;58(4):348-52. PubMed PMID: 8533844.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Craniomicromelic syndrome: a newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation. AU - Barr,M,Jr AU - Heidelberger,K P, AU - Comstock,C H, PY - 1995/9/25/pubmed PY - 2001/3/28/medline PY - 1995/9/25/entrez SP - 348 EP - 52 JF - American journal of medical genetics JO - Am J Med Genet VL - 58 IS - 4 N2 - We report on two sisters with an unusual form of craniosynostosis, protruding nasal spine, micrognathia, short limbs, lung hypoplasia, absent or hypoplastic gallbladder, short intestine with ileal distention, hypoplastic uterus, and intrauterine growth retardation. This combination of defects appears to be a newly recognized and probably autosomal recessive disorder. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8533844/Craniomicromelic_syndrome:_a_newly_recognized_lethal_condition_with_craniosynostosis_distinct_facial_anomalies_short_limbs_and_intrauterine_growth_retardation_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=58&issue=4&spage=348 DB - PRIME DP - Unbound Medicine ER -