Cerebrofaciothoracic dysplasia: a new family.
We describe two brothers, born to consanguineous parents, who had facial dysmorphism, complex anomalies of the vertebrae and ribs, enlarged cerebral ventricles and septum pellucidum, mental retardation, and affable behaviour. The features are similar to those previously described in three unrelated children and may represent new cases of cerebrofaciothoracic dysplasia.
Philip
N
N
Centre de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France.
Guala
A
A
Moncla
A
A
Monlouis
M
M
Aymé
S
S
Giraud
F
F
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D003241:Consanguinity; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D011296:Prenatal Diagnosis; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*; D014463:Ultrasonography