关键词: 身材矮小； Crouzon综合征； 生长激素缺乏症； 重组人生长激素

Abstract: Objective To explore the efficacy and safety of recombinant human growth hormone (rhGH) in Crouzon syndrome with growth hormone deficiency (GHD) in a child. Method The clinical data of Crouzon syndrome with GHD in a child treated with rhGH for 2 years were retrospectively analyzed. Results A girl with a height of 98 . 2 cm (G (p.Ser 354 Cys), which was derived from the mother and was known to be a pathogenic variation. The child was diagnosed with Crouzon syndrome. At the same time, the related examinations suggested that the child were complicated with GHD, and the rhGH therapy was given. After 2 years of treatment with rhGH, the child reached 117 cm in height with an average growth rate of 9 . 4 cm per year. During the treatment, cranial magnetic resonance imaging showed that the lateral ventricle and the third ventricle were slightly dilated and no progression. Ophthalmic follow-up showed that the degree of optic disc edema in the left eye was lessened and no adverse reactions were found. Conclusions Short stature may be a phenotype of the Crouzon syndrome. The rhGH treatment can improve the height of children with Crouzon syndrome and GHD without causing adverse reactions such as increased intracranial pressure.

Key words: short stature; Crouzon syndrome; growth hormone deficiency; recombinant human growth hormone