title: CFC syndrome: a syndrome distinct from Noonan syndrome.
abstract: We report two children with a common pattern of birth defects. Both have very sparse, curly hair, nystagmus and mental retardation. The first one has Noonan syndrome habitus associated with keratosis plantaris and nystagmus; the second one has a slightly Noonan-like face, macrocephaly, keratosis pilaris, and hypertrophic cardiomyopathy. They represent the extreme of a spectrum of congenital defects recently reported independently as CFC syndrome by Reynolds and as "Noonan-like short stature syndrome with sparse hair" by Baraitser and Patton. The clinical features are reviewed and the autonomy of the syndrome with regards to Noonan syndrome, is disputed, since every sign seems to occur independently in Noonan syndrome. The father of the second case probably has a minor syndrome expression, pointing to probable autosomal dominant inheritance.
authors.affiliation: Service de Génétique, Pathologie B23, CHU Sart Tilman, Liege.
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: D
authors.initials: D
authors.lastname: Soyeur
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
authors.forename: C
authors.initials: C
authors.lastname: Pangalos
authors.forename: J
authors.initials: J
authors.lastname: Rigo
authors.forename: M L
authors.initials: ML
authors.lastname: Briard
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D003878:Dermatoglyphics; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006197:Hair / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000150:complications; D009634:Noonan Syndrome / Q000175:diagnosis; D012868:Skin Abnormalities; D013577:Syndrome