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A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.
J Med Genet. 1989 May; 26(5):339-42.JM

Abstract

Two sibs with a similar pattern of unusual facial features, limb malformations, and postnatal onset of ichthyosis are reported. The parents are first cousins and neither shows any stigmata of the disorder. The presence of ichthyosis suggests that there may be a metabolic component to this syndrome. In view of the consanguinity and pattern of the malformations, autosomal recessive inheritance seems likely.

Links

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Authors+Show Affiliations

Clayton-Smith J
Department of Medical Genetics, St Mary's Hospital, Manchester.
Donnai D
No affiliation info available

MeSH

Abnormalities, MultipleConsanguinityFaceFamilyFemaleFingersGenes, RecessiveHumansIchthyosisInfantMaleToes

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2732996

Citation

Clayton-Smith, J, and D Donnai. "A New Recessive Syndrome of Unusual Facies, Digital Abnormalities, and Ichthyosis." Journal of Medical Genetics, vol. 26, no. 5, 1989, pp. 339-42.
Clayton-Smith J, Donnai D. A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis. J Med Genet. 1989;26(5):339-42.
Clayton-Smith, J., & Donnai, D. (1989). A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis. Journal of Medical Genetics, 26(5), 339-42.
Clayton-Smith J, Donnai D. A New Recessive Syndrome of Unusual Facies, Digital Abnormalities, and Ichthyosis. J Med Genet. 1989;26(5):339-42. PubMed PMID: 2732996.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis. AU - Clayton-Smith,J, AU - Donnai,D, PY - 1989/5/1/pubmed PY - 1989/5/1/medline PY - 1989/5/1/entrez SP - 339 EP - 42 JF - Journal of medical genetics JO - J Med Genet VL - 26 IS - 5 N2 - Two sibs with a similar pattern of unusual facial features, limb malformations, and postnatal onset of ichthyosis are reported. The parents are first cousins and neither shows any stigmata of the disorder. The presence of ichthyosis suggests that there may be a metabolic component to this syndrome. In view of the consanguinity and pattern of the malformations, autosomal recessive inheritance seems likely. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/2732996/A_new_recessive_syndrome_of_unusual_facies_digital_abnormalities_and_ichthyosis_ DB - PRIME DP - Unbound Medicine ER -