A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia.
Five children are reported with dolichocephaly (with sagittal suture synostosis in three), sparse, slow-growing, fine hair, epicanthal folds, hypodontia and/or microdontia, short span, brachydactyly and brachypodia, and narrow thoraces. Radiologic abnormalities were noted chiefly in the skull, chest, and limbs. Intelligence was normal. The pattern of inheritance is compatible with an autosomal recessive trait.
D000015:Abnormalities, Multiple / Q000235:genetics; D003398:Craniosynostoses / Q000235:genetics*; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital; D008297:Male; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*