Tags

Type your tag names separated by a space and hit enter

Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder.
Am J Med Genet. 1995 Jan 16; 55(2):213-6.AJ

Abstract

We report on 3 members of a Spanish family with partial aphalangia, syndactyly with duplication of metatarsal IV, microcephaly, dull intelligence, and short stature. The MCA pattern observed in this family appears to constitute a previously undescribed syndrome.

Links

Publisher Full Text

Authors+Show Affiliations

Martínez-Frías ML
ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Martín M
No affiliation info available
Pardo M
No affiliation info available
Fernandez de las Heras F
No affiliation info available
Frías JL
No affiliation info available

MeSH

Abnormalities, MultipleDwarfismFemaleFoot Deformities, CongenitalGenes, DominantHand Deformities, CongenitalHumansInfant, NewbornIntellectual DisabilityMaleMicrocephalyPedigreePregnancySyndrome

Pub Type(s)

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

Language

eng

PubMed ID

7717420

Citation

Martínez-Frías, M L., et al. "Distal Aphalangia, Syndactyly, and Extra Metatarsal, Associated With Short Stature, Microcephaly, and Borderline Intelligence: a New Autosomal Dominant Disorder." American Journal of Medical Genetics, vol. 55, no. 2, 1995, pp. 213-6.
Martínez-Frías ML, Martín M, Pardo M, et al. Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder. Am J Med Genet. 1995;55(2):213-6.
Martínez-Frías, M. L., Martín, M., Pardo, M., Fernandez de las Heras, F., & Frías, J. L. (1995). Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder. American Journal of Medical Genetics, 55(2), 213-6.
Martínez-Frías ML, et al. Distal Aphalangia, Syndactyly, and Extra Metatarsal, Associated With Short Stature, Microcephaly, and Borderline Intelligence: a New Autosomal Dominant Disorder. Am J Med Genet. 1995 Jan 16;55(2):213-6. PubMed PMID: 7717420.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder. AU - Martínez-Frías,M L, AU - Martín,M, AU - Pardo,M, AU - Fernandez de las Heras,F, AU - Frías,J L, PY - 1995/1/16/pubmed PY - 1995/1/16/medline PY - 1995/1/16/entrez SP - 213 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 55 IS - 2 N2 - We report on 3 members of a Spanish family with partial aphalangia, syndactyly with duplication of metatarsal IV, microcephaly, dull intelligence, and short stature. The MCA pattern observed in this family appears to constitute a previously undescribed syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7717420/Distal_aphalangia_syndactyly_and_extra_metatarsal_associated_with_short_stature_microcephaly_and_borderline_intelligence:_a_new_autosomal_dominant_disorder_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=55&issue=2&spage=213 DB - PRIME DP - Unbound Medicine ER -