Characteristic facial dysmorphism, arachnodactyly and mental handicap in two unrelated girls: a distinct MCA/MR syndrome?
Two nonrelated, moderately mentally retarded girls are described with identical clinical signs and symptoms, i.e. brachycephaly, typical facies with thin lips and microstomia, ectomorphic habitus with extreme long, thin fingers and toes and hypoplastic external genitalia. The clinical findings in the present patients allow for the delineation of a new MCA/MR syndrome.
de Die-Smulders
C
C
Department of Clinical Genetics, Academic Hospital, Maastricht, The Netherlands.
Vles
H
H
Fryns
J P
JP
D000015:Abnormalities, Multiple; D002574:Cervical Vertebrae / Q000002:abnormalities; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008382:Marfan Syndrome; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014844:Vulva / Q000002:abnormalities