Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.

Abstract

We report on three further cases of mildly retarded patients with marfanoid habitus and a pattern of minor anomalies. These patients are likely to be affected with the Lujan-Fryns syndrome. We have reviewed twenty cases from the literature for a better delineation of this newly recognized disorder.

• Authors: D Lacombe, D Bonneau, A Verloes, D Couet, L Koulischer, J Battin
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 4 Issue 3 Pg. 193-8 ( 1993) ISSN: 1015-8146 [Print] Switzerland
• PMID: 8267926 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics, pathology)
• Adolescent
• Arm (abnormalities)
• Facial Bones (abnormalities)
• Foot Deformities, Congenital (pathology)
• Genetic Linkage
• Growth Disorders (pathology)
• Hand Deformities, Congenital (pathology)
• Humans
• Intellectual Disability (genetics)
• Male
• Marfan Syndrome
• Skull (abnormalities)
• Syndrome
• X Chromosome