A case of long-term survival of SADDAN treated with growth hormone for marked short stature-Reference-Cited by-同舟云学术

A case of long-term survival of SADDAN treated with growth hormone for marked short stature

Published:2024 Issue:3 Volume:33 Page:144-150
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Kanno Junko¹,Katata Yu¹²,Kawashima Sayaka¹,Shima Hirohito¹,Sogi Chisumi¹³,Umeki Ikumi¹⁴,Suzuki Dai¹,Tomita Hasumi⁵,Kamimura Miki¹⁶,Saito-Hakoda Akiko¹⁷,Fujiwara Ikuma¹⁸,Hanita Takushi¹,Kikuchi Atsuo¹

Affiliation:

1. Department of Pediatrics, Tohoku University Hospital, Sendai, Japan

2. Department of Pediatric Neurology, Miyagi Children’s Hospital, Sendai, Japan

3. Department of Pediatrics, JCHO Sendai Hospital, Sendai, Japan

4. Department of Pediatrics, Iwate Prefectural Central Hospital, Morioka, Japan

5. Department of Gynecology and Obstetrics, Tohoku University Hospital, Sendai, Japan

6. Department of Pediatrics, National Hospital Organisation Sendai Medical Center, Sendai, Japan

7. Department of Pediatrics, JR Sendai Hospital, Sendai, Japan

8. Department of Pediatrics, Sendai City Hospital, Sendai, Japan

Publisher

Japanese Society for Pediatric Endocrinology

Link

https://www.jstage.jst.go.jp/article/cpe/33/3/33_2023-0068/_pdf

Reference14 articles.

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2. 2. Horton, WA, Hall, JG, Hecht, JT. Achondroplasia. Lancet 2007;370: 162–72.

3. 3. Bellus, GA, Bamshad, MJ, Przylepa, KA, Dorst, J, Lee, RR, Hurko, O, et al. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. Am J Med Genet 1999;85: 53–65.

4. 4. Tavormina, PL, Bellus, GA, Webster, MK, Bamshad, MJ, Fraley, AE, McIntosh, I, et al. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Am J Hum Genet 1999;64: 722–31.

5. 5. Zankl, A, Elakis, G, Susman, RD, Inglis, G, Gardener, G, Buckley, MF, et al. Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. Am J Med Genet A 2008;146A: 212–8.