Abstract
Differential diagnosis of coarse fades with a plan of investigations is presented. An algorithm has been devised for cases of mucopolysaccharidoses.
Similar content being viewed by others
References
Smith DW.Recognisable patterns of human malformations. 3rd ed. Philadelphia: WB Saunders Co. 1982
Gorlin RJ, Pindborg JJ, Cohen MM,Syndromes of the head and neck 2nd ed. New York: McGraw-Hill Book Co. 1976
Goodman RM, Gorlin RJ.Atlas of the face in genetic disorders 2nd ed. St. Louis: CV Mosby Co. 1977
McKusick VA.Heritable disorders of connective tissue 4th ed. St. Louis: CV Mosby Co. 1972
Cawson RA.The oral changes in gargoylism. Proc R Soc Med 1962; 55:1066–1970
Caffey J. The mucopolysacchariodoses. In:Pediatric X-ray diagnosis. 7th ed. Chicago : Year Book Med Pub Inc 1978; pl21
Spranger JW, Langar LO, Wiedemann H-R Bone dysplasias. In:Atlas of contitutional disorders of the skeletal development Philadelphia : WB Saunders Co. 1974
Gardner JM, Hay JR.Hurler’s syndrome with clearcornea (Letter),Lancet 1974;ii: 845
McKusick VA, Neufeld EF. The Mucopolysaccharide storage disease. In:The metabolic basis of inherited disease. Stanbury JB (eds) 5th ed. New York: McGraw-Hill Book Co. 1983; 761
Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds).The metabolic basis of inherited disease 5th ed. New York: McGraw-Hill Book Co. 1983
Lewis PW, Raine DN, Kennedy JF. Recognition of the mucopolysaccharidoses by four screening tests, including a refinement of the albumin turbidity test, and thendifferentiation by electrophoretic separation of urinary glycosaminoglycans.Ann Clin Biochem 1974;11: 67–71
Coffin GS, Siris ER, Wegienka LC. Mental retardation with Osteo-cartilaginous anomalies.Am J Dis Child 1966;112: 205–213
Lowry RB, Miller JR, Fraser FC. A new dominant gene mental retardation syndrome: Association with small stature, tapering fingers, characteristic fades and possible hydrocephalus.Am J Dis Child 1971;121:496–500
Coffin GS, Siris E. Mental retardation with absent fifth fingernail and terminal phalanx.Am J Dis Child 1970;119: 433–439
Behrman RE, Vaughan VC, III,Nelson Text book of pediatrics 12th ed. Philadelphia: WB Saunders, 1983
Adams RD, Giiles L.Neurology of hereditary metabolic diseases of children New York: McGraw-Hill Book Co, 1982
Author information
Authors and Affiliations
Additional information
See related article on p. 919
Rights and permissions
About this article
Cite this article
Kagalwala, T.Y., Bharucha, B.A., Khare, R.D. et al. Diagnostic approach to coarse facies. Indian J Pediatr 55, 861–870 (1988). https://doi.org/10.1007/BF02727817
Issue Date:
DOI: https://doi.org/10.1007/BF02727817