Kenny-Caffey Syndrome type 2: Insight from two Vietnamese cases
Nội dung chính của bài viết
Tóm tắt
We report two unrelated 8-year-old Vietnamese girls diagnosed with Kenny-Caffey Syndrome type 2 (KCS2), each harboring the same heterozygous pathogenic variant in the FAM111A gene (c.1706G>A, p.Arg569His). Case 1 presented initially at age 4 with poor growth and persistent anterior fontanelle. At age 8, she exhibited severe short stature (-4.5 SDS), macrocephaly, small hands, and craniofacial dysmorphisms. Additional findings included persistent fontanelle, hyperopia with amblyopia, cortical thickening of long bones, and asymptomatic hypocalcemia with normal parathyroid hormone (PTH) levels. Brain MRI showed a thin pituitary gland. Case 2 presented with short stature (-4.96 SDS), a history of hypocalcemic seizures, and congenital astigmatism. She had normal facial appearance but showed cortical bone thinning, absent pituitary lobes, and hypocalcemia with inappropriately low PTH levels. Despite calcium supplementation, normocalcemia was achieved only after calcitriol therapy. Growth hormone was later initiated with favorable growth response. Both cases underscore the variable expressivity of KCS2 and highlight the diagnostic value of genetic testing in children with unexplained short stature, skeletal anomalies, and calcium disturbances. The study contributed additional data on NKX6-2 variants in Vietnamese patients.
Chi tiết bài viết
Từ khóa
Kenny-Caffey syndrome, severe short status
Tài liệu tham khảo
2. Abraham MB, Li D, Tang D, et al. Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene. International journal of pediatric endocrinology. 2017;2017(1). doi:10.1186/S13633-016-0041-7
3. Cheng SSW, Chan PKJ, Luk HM, et al. Adult Chinese twins with Kenny–Caffey syndrome type 2: A potential age-dependent phenotype and review of literature. American Journal of Medical Genetics Part A. 2021;185(2):636-646. doi:10.1002/AJMG.A.61991
4. Chen X, Zou C. Further delineation of phenotype and genotype of Kenny–Caffey syndrome type 2 (phenotype and genotype of KCS type 2). Molecular Genetics & Genomic Medicine. 2024;12(4):e2433. doi:10.1002/MGG3.2433
5. Cavole TR, Perrone E, de Faria Soares M, et al. Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report. American journal of medical genetics Part A. 2020;182(12):3029-3034. doi:10.1002/AJMG.A.61896
6. Unger S, Górna MW, Le Béchec A, et al. FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development. American Journal of Human Genetics. 2013;92(6):990. doi:10.1016/J.AJHG.2013.04.020
7. Eren E, Ünlü HT, Ceylaner S, et al. Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2. Journal of Clinical Research in Pediatric Endocrinology. 2023;15(1):97. doi:10.4274/JCRPE.GALENOS.2021.2020.0315
8. Yuan N, Lu L, Xing XP, et al. Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report. World Journal of Clinical Cases. 2023;11(10):2290-2300. doi:10.12998/wjcc.v11.i10.2290
9. Deconte D, Kreusch TC, Salvaro BP, et al. Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2. Journal of Pediatric Genetics. 2020;9(4):263. doi:10.1055/S-0039-3401831
10. Kyriaki Hatziagapiou, Amalia Sertedaki, Vasiliki Dermentzoglou, et al. Kenny Caffey syndrome 2; expanding the clinical spectrum. European Society for Paediatric Endocrinology. 2023;97:P2-58.