Letter: A newly recognized inherited syndrome of dwarfism, craniosynostosis, retinitis pigmentosa, and multiple congenital malformations.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000365:Age Determination by Skeleton; D001157:Arterial Occlusive Diseases / Q000175:diagnosis; D001827:Body Height; D001835:Body Weight; D002508:Cephalometry; D002648:Child; D003398:Craniosynostoses / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D006801:Humans; D007360:Intelligence; D012161:Retinal Artery; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome; D014792:Visual Acuity; D014794:Visual Fields