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DK-phocomelia syndrome in a child with a long follow-up.
Am J Med Genet. 1994 Sep 01; 52(3):269-71.AJ

Abstract

We report on an 8-year-old boy with a pattern of multiple congenital anomalies that strongly suggest DK-phocomelia syndrome. Birth findings included bilateral upper limb amelia, occipital encephalocele, agenesis of the corpus callosum, right auricular tag, scoliosis, small penis, and cryptorchidism. Dental malocclusion was observed in the follow-up. This is the first case with on 8-year follow-up report of DK-phocomelia syndrome.

Authors+Show Affiliations

ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

7810557

Citation

Urioste, M, et al. "DK-phocomelia Syndrome in a Child With a Long Follow-up." American Journal of Medical Genetics, vol. 52, no. 3, 1994, pp. 269-71.
Urioste M, Paisán L, Martínez-Frías ML. DK-phocomelia syndrome in a child with a long follow-up. Am J Med Genet. 1994;52(3):269-71.
Urioste, M., Paisán, L., & Martínez-Frías, M. L. (1994). DK-phocomelia syndrome in a child with a long follow-up. American Journal of Medical Genetics, 52(3), 269-71.
Urioste M, Paisán L, Martínez-Frías ML. DK-phocomelia Syndrome in a Child With a Long Follow-up. Am J Med Genet. 1994 Sep 1;52(3):269-71. PubMed PMID: 7810557.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - DK-phocomelia syndrome in a child with a long follow-up. AU - Urioste,M, AU - Paisán,L, AU - Martínez-Frías,M L, PY - 1994/9/1/pubmed PY - 1994/9/1/medline PY - 1994/9/1/entrez SP - 269 EP - 71 JF - American journal of medical genetics JO - Am J Med Genet VL - 52 IS - 3 N2 - We report on an 8-year-old boy with a pattern of multiple congenital anomalies that strongly suggest DK-phocomelia syndrome. Birth findings included bilateral upper limb amelia, occipital encephalocele, agenesis of the corpus callosum, right auricular tag, scoliosis, small penis, and cryptorchidism. Dental malocclusion was observed in the follow-up. This is the first case with on 8-year follow-up report of DK-phocomelia syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7810557/DK_phocomelia_syndrome_in_a_child_with_a_long_follow_up_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=52&issue=3&spage=269 DB - PRIME DP - Unbound Medicine ER -