Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder.
We report on three male patients from a single family with a brachyturricephaly, "pugilistic" facial appearance, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. Three other males in the family, now deceased from cardiac disease, appear to have had the same disorder. The mother of the propositus has milder signs of the syndrome. All affected males are related through the maternal line. These cases represent an apparently previously undescribed X-linked recessive syndrome.
Quadrelli
R
R
Instituto de Genética Médica, Hospital Italiano, Montevideo, Uruguay. rquadr2@adinet.com.uy
Vaglio
A
A
Reyno
S
S
Lemes
A
A
Salazar
D
D
Lachman
R S
RS
Wilcox
W R
WR
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D009202:Cardiomyopathies / Q000235:genetics; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005147:Facial Bones / Q000002:abnormalities*; D005192:Family Health; D005530:Foot Deformities / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage; D006226:Hand Deformities / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D006801:Humans; D007596:Joints / Q000002:abnormalities / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009123:Muscle Hypotonia; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D011859:Radiography; D013577:Syndrome; D014583:Uruguay; D014960:X Chromosome