title: Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases.
abstract: The association of Hypertelorism, Microtia and Cleft lip and palate (HMC syndrome, MIM 239800) is a rare condition of autosomal recessive inheritance. A total of seven cases of HMC syndrome in five families have been hitherto reported. Here, we report two unrelated cases and put emphasis on the possible normal psychomotor development in this syndrome.
authors.affiliation: Département de Génétique, H pital Necker-Enfants Malades, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Amiel
authors.forename: L
authors.initials: L
authors.lastname: Faivre
authors.forename: R
authors.initials: R
authors.lastname: Marianowskl
authors.forename: D
authors.initials: D
authors.lastname: Bonnet
authors.forename: G
authors.initials: G
authors.lastname: Couly
authors.forename: Y
authors.initials: Y
authors.lastname: Manach
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
mesh_terms: D002675:Child, Preschool; D002971:Cleft Lip / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002972:Cleft Palate / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities*; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008297:Male; D013577:Syndrome