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A new recessive syndrome of unusual facies and multiple structural abnormalities.
J Med Genet. 1991 Sep; 28(9):633-5.JM

Abstract

Two sibs with a similar pattern of dysmorphic facial features and multiple structural abnormalities are reported. Both had a normal karyotype. The parents are first cousins and neither shows any stigmata of the disorder. In view of the consanguinity and pattern of malformations, autosomal recessive inheritance seems likely.

Links

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Authors+Show Affiliations

Thakker Y
Department of Medical Genetics, St Mary's Hospital, Manchester.
Donnai D
No affiliation info available

MeSH

Abnormalities, MultipleBrainConsanguinityDiGeorge SyndromeDiagnosis, DifferentialFaceFemaleFetal DiseasesGenes, RecessiveHeart Defects, CongenitalHumansInfant, NewbornMaleMuscular AtrophySpinal Muscular Atrophies of ChildhoodViscera

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1956065

Citation

Thakker, Y, and D Donnai. "A New Recessive Syndrome of Unusual Facies and Multiple Structural Abnormalities." Journal of Medical Genetics, vol. 28, no. 9, 1991, pp. 633-5.
Thakker Y, Donnai D. A new recessive syndrome of unusual facies and multiple structural abnormalities. J Med Genet. 1991;28(9):633-5.
Thakker, Y., & Donnai, D. (1991). A new recessive syndrome of unusual facies and multiple structural abnormalities. Journal of Medical Genetics, 28(9), 633-5.
Thakker Y, Donnai D. A New Recessive Syndrome of Unusual Facies and Multiple Structural Abnormalities. J Med Genet. 1991;28(9):633-5. PubMed PMID: 1956065.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new recessive syndrome of unusual facies and multiple structural abnormalities. AU - Thakker,Y, AU - Donnai,D, PY - 1991/9/1/pubmed PY - 1991/9/1/medline PY - 1991/9/1/entrez SP - 633 EP - 5 JF - Journal of medical genetics JO - J Med Genet VL - 28 IS - 9 N2 - Two sibs with a similar pattern of dysmorphic facial features and multiple structural abnormalities are reported. Both had a normal karyotype. The parents are first cousins and neither shows any stigmata of the disorder. In view of the consanguinity and pattern of malformations, autosomal recessive inheritance seems likely. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/1956065/A_new_recessive_syndrome_of_unusual_facies_and_multiple_structural_abnormalities_ DB - PRIME DP - Unbound Medicine ER -