A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities.
Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance.
Giacheti
Célia M
CM
Departamento de Fonoaudiologia, UNESP, Marília, SP, Brazil.
Zanchetta
Sthella
S
Maranhe
Elizandra
E
Cassab
Tatiana V
TV
Abramides
Dagma V
DV
Souza
Deise H
DH
De-Vitto
Luciana P M
LP
Richieri-Costa
Antonio
A
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D000328:Adult; D019465:Craniofacial Abnormalities / Q000235:genetics*; D019066:Facies; D005192:Family Health; D005260:Female; D005528:Foot / Q000473:pathology; D005799:Genes, Dominant; D006225:Hand / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007802:Language; D007859:Learning Disabilities / Q000235:genetics*; D008382:Marfan Syndrome / Q000235:genetics; D009666:Nose / Q000473:pathology; D013577:Syndrome