Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome.
We present a child with severe mental retardation, a central nervous system malformation, signs of ectodermal dysplasia, and a distinct craniofacial dysmorphism. Similar but less pronounced craniofacial features were present in the mildly mentally retarded mother. This observation confirms a previous report of a boy with the same MCA-MR syndrome and suggests X linked or autosomal dominant inheritance.
Devriendt
K
K
Centre for Human Genetics, University of Leuven, Belgium.
D'Espallier
L
L
Fryns
J P
JP
D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D004475:Ectoderm / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014960:X Chromosome