Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases.
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.
Amiel
J
J
Département de Génétique, H pital Necker-Enfants Malades, Paris, France.
Faivre
L
L
Marianowskl
R
R
Bonnet
D
D
Couly
G
G
Manach
Y
Y
Le Merrer
M
M
Cormier-Daire
V
V
Munnich
A
A
Lyonnet
S
S
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