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J Med Genet. 1991 January; 28(1): 48–50.
PMCID: PMC1016748

Growth hormone deficiency in a girl with the Cohen syndrome.


A girl with the Cohen syndrome and isolated growth hormone deficiency is described. Treatment with biosynthetic human growth hormone resulted in marked catch up growth to normal stature. It is concluded that growth hormone deficiency should be ruled out in patients with the Cohen syndrome and small stature.

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Selected References

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  • Carey JC, Hall BD. Confirmation of the Cohen syndrome. J Pediatr. 1978 Aug;93(2):239–244. [PubMed]
  • Ferré P, Fournet JP, Courpotin C. Le syndrome de Cohen, une affection autosomique récessive? Arch Fr Pediatr. 1982 Mar;39(3):159–160. [PubMed]
  • Resnick K, Zuckerman J, Cotlier E. Cohen syndrome with bull's eye macular lesion. Ophthalmic Paediatr Genet. 1986 Mar;7(1):1–8. [PubMed]
  • Young ID, Moore JR. Intrafamilial variation in Cohen syndrome. J Med Genet. 1987 Aug;24(8):488–492. [PMC free article] [PubMed]
  • Balestrazzi P, Corrini L, Villani G, Bolla MP, Casa F, Bernasconi S. The Cohen syndrome: clinical and endocrinological studies of two new cases. J Med Genet. 1980 Dec;17(6):430–432. [PMC free article] [PubMed]
  • Goecke T, Majewski F, Kauther KD, Sterzel U. Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome). Report of three patients. Eur J Pediatr. 1982 Jul;138(4):338–340. [PubMed]
  • Brook CG, Hindmarsh PC, Smith PJ, Stanhope R. Clinical features and investigation of growth hormone deficiency. Clin Endocrinol Metab. 1986 Aug;15(3):479–493. [PubMed]

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