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Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.
Am J Med Genet. 1982 Sep; 13(1):71-9.AJ

Abstract

We report the familial occurrence in a French Canadian family of metaphyseal dysplasia associated to short stature and previously undescribed facial and acral anomalies. Facial manifestations include beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth. Acral changes include bilateral shortness of metacarpal 5 and/or 2nd middle phalanx of fingers 2 and 5. Dermatoglyphics show low TRC, distal or absent axial triradius, absent triradius C, and radial loop on digit 4. The syndrome appears to be an autosomal dominant trait.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7137223

Citation

Halal, F, et al. "Metaphyseal Dysplasia With Maxillary Hypoplasia and Brachydactyly." American Journal of Medical Genetics, vol. 13, no. 1, 1982, pp. 71-9.
Halal F, Picard JL, Raymond-Tremblay D, et al. Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. Am J Med Genet. 1982;13(1):71-9.
Halal, F., Picard, J. L., Raymond-Tremblay, D., & de Bosset, P. (1982). Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. American Journal of Medical Genetics, 13(1), 71-9.
Halal F, et al. Metaphyseal Dysplasia With Maxillary Hypoplasia and Brachydactyly. Am J Med Genet. 1982;13(1):71-9. PubMed PMID: 7137223.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. AU - Halal,F, AU - Picard,J L, AU - Raymond-Tremblay,D, AU - de Bosset,P, PY - 1982/9/1/pubmed PY - 1982/9/1/medline PY - 1982/9/1/entrez SP - 71 EP - 9 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 13 IS - 1 N2 - We report the familial occurrence in a French Canadian family of metaphyseal dysplasia associated to short stature and previously undescribed facial and acral anomalies. Facial manifestations include beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth. Acral changes include bilateral shortness of metacarpal 5 and/or 2nd middle phalanx of fingers 2 and 5. Dermatoglyphics show low TRC, distal or absent axial triradius, absent triradius C, and radial loop on digit 4. The syndrome appears to be an autosomal dominant trait. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7137223/Metaphyseal_dysplasia_with_maxillary_hypoplasia_and_brachydactyly_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1982&volume=13&issue=1&spage=71 DB - PRIME DP - Unbound Medicine ER -