Distinctive autosomal or X-linked dominant syndrome of microcephaly, mild developmental delay, short stature, and distinctive face.
We report on a mother and two sons with a syndrome of microcephaly, short stature, a distinctive face, broad thumbs and great toes, and mild developmental delay. There are similarities to the patients reported by Bawle and Horton [Am J Med Genet 33:382-384, 1989] and Evans [Clin Genet 39:178-180, 1991] but it is not certain whether the patients have the same condition. Inheritance could either be autosomal or X-linked dominant.
Winter
R M
RM
Mothercare Department of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, United Kingdom.
D000328:Adult; D002675:Child, Preschool; D002871:Chromosome Banding; D002658:Developmental Disabilities / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome