MCA/MR syndrome with oligodactyly and Möbius anomaly in first cousins: new syndrome or familial facial-limb disruption sequence?
We report on two sibs with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome who have a first cousin with Möbius anomaly. This may represent a new MCA/MR syndrome.
Journel
H
H
Service de Pédiatrie et Génétique Médicale, Vannes, France.
Roussey
M
M
Le Marec
B
B
D000015:Abnormalities, Multiple / Q000235:genetics*; D003389:Cranial Nerve Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities