Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.
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.
Lacombe
D
D
Service de Pédiatrie et Génétique Médicale, Pellegrin-Hôpital d'Enfants, Bordeaux, France.
Bonneau
D
D
Verloes
A
A
Couet
D
D
Koulischer
L
L
Battin
J
J
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D001132:Arm / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000473:pathology; D008040:Genetic Linkage; D006130:Growth Disorders / Q000473:pathology*; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008382:Marfan Syndrome; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014960:X Chromosome