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Literature DB >> 1999833

Growth hormone deficiency in a girl with the Cohen syndrome.

G Massa¹, L Dooms, M Vanderschueren-Lodeweyckx.

Abstract

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.

Entities: Disease Gene Species

Mesh：

Substances：
Growth Hormone

Year: 1991 PMID： 1999833 PMCID： PMC1016748 DOI： 10.1136/jmg.28.1.48

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

7 in total

Review 1. Clinical features and investigation of growth hormone deficiency.

Authors: C G Brook; P C Hindmarsh; P J Smith; R Stanhope
Journal: Clin Endocrinol Metab Date: 1986-08

2. Cohen syndrome with bull's eye macular lesion.

Authors: K Resnick; J Zuckerman; E Cotlier
Journal: Ophthalmic Paediatr Genet Date: 1986-03

3. The Cohen syndrome: clinical and endocrinological studies of two new cases.

Authors: P Balestrazzi; L Corrini; G Villani; M P Bolla; F Casa; S Bernasconi
Journal: J Med Genet Date: 1980-12 Impact factor: 6.318

4. [Cohen syndrome, an autosomal recessive disease? (author's transl)].

Authors: P Ferré; J P Fournet; C Courpotin
Journal: Arch Fr Pediatr Date: 1982-03

5. Intrafamilial variation in Cohen syndrome.

Authors: I D Young; J R Moore
Journal: J Med Genet Date: 1987-08 Impact factor: 6.318

6. Confirmation of the Cohen syndrome.

Authors: J C Carey; B D Hall
Journal: J Pediatr Date: 1978-08 Impact factor: 4.406

7. Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome). Report of three patients.

Authors: T Goecke; F Majewski; K D Kauther; U Sterzel
Journal: Eur J Pediatr Date: 1982-07 Impact factor: 3.183

7 in total

4 in total

Growth hormone deficiency in a girl with the Cohen syndrome.

Review 1. Clinical features and investigation of growth hormone deficiency.

2. Cohen syndrome with bull's eye macular lesion.

3. The Cohen syndrome: clinical and endocrinological studies of two new cases.

4. [Cohen syndrome, an autosomal recessive disease? (author's transl)].

5. Intrafamilial variation in Cohen syndrome.

6. Confirmation of the Cohen syndrome.

7. Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome). Report of three patients.

1. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.

Review 2. Cohen Syndrome: Review of the Literature.

3. Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing.

Review 4. Surgical treatment for kyphoscoliosis in Cohen syndrome.