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Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.
J Med Genet. 1989 Dec; 26(12):785-6.JM

Abstract

Young and Simpson in 1987 and Fryns and Moerman in 1988 each reported a case of a new unknown syndrome with hypothyroidism, severe global retardation, and abnormal facies, including microcephaly, blepharophimosis, bulbous nose, thin upper lip, low set ears, and micrognathia. A male infant with a similar pattern of malformations and postaxial polydactyly is reported here.

Links

Publisher Full Text
ncbi.nlm.nih.gov
jmg.bmj.com
PMC Free PDF

Authors+Show Affiliations

Cavalcanti DP
Departamento de Genética Médica, FCM, UNICAMP, SP, Brazil.

MeSH

Abnormalities, MultipleCongenital HypothyroidismFacial BonesFingersHumansInfantInfant, NewbornIntellectual DisabilityMaleSkullSyndrome

Pub Type(s)

Journal Article

Language

eng

PubMed ID

2614801

Citation

Cavalcanti, D P.. "Unknown Syndrome: Abnormal Facies, Hypothyroidism, Postaxial Polydactyly, and Severe Retardation: a Third Patient." Journal of Medical Genetics, vol. 26, no. 12, 1989, pp. 785-6.
Cavalcanti DP. Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient. J Med Genet. 1989;26(12):785-6.
Cavalcanti, D. P. (1989). Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient. Journal of Medical Genetics, 26(12), 785-6.
Cavalcanti DP. Unknown Syndrome: Abnormal Facies, Hypothyroidism, Postaxial Polydactyly, and Severe Retardation: a Third Patient. J Med Genet. 1989;26(12):785-6. PubMed PMID: 2614801.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient. A1 - Cavalcanti,D P, PY - 1989/12/1/pubmed PY - 1989/12/1/medline PY - 1989/12/1/entrez SP - 785 EP - 6 JF - Journal of medical genetics JO - J Med Genet VL - 26 IS - 12 N2 - Young and Simpson in 1987 and Fryns and Moerman in 1988 each reported a case of a new unknown syndrome with hypothyroidism, severe global retardation, and abnormal facies, including microcephaly, blepharophimosis, bulbous nose, thin upper lip, low set ears, and micrognathia. A male infant with a similar pattern of malformations and postaxial polydactyly is reported here. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/2614801/Unknown_syndrome:_abnormal_facies_hypothyroidism_postaxial_polydactyly_and_severe_retardation:_a_third_patient_ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=2614801 DB - PRIME DP - Unbound Medicine ER -