Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2Funding This work was funded by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES).
02 September 2019
07 November 2019
06 January 2020 (online)
Kenny-Caffey syndrome (KCS) is a rare genetic condition characterized by growth retardation, bone abnormalities, and hypoparathyroidism. Herein, we report an unusual case of a 10-year-old girl with Kenny-Caffey syndrome type 2 (KCS2) presenting with vision impairment-suspected maculopathy and intellectual disability. Endocrine evaluation showed low calcium and high phosphorus plasma levels. Radiographic evaluation revealed short metacarpal bones and delayed bone age. Sequencing analysis showed a missense variant in FAM111A (R569H), unidentified in her parents. Better understanding of potential neurological and ophthalmological findings in KCS2 patients is important to improve quality of life of these patients as usually they exhibit long survival.
This study was approved by the research ethics committee of the hospital. The project to which this work is associated allows the use of patient images and data, as long as they are not identified.
* These authors contributed equally to this work.
- 1 Kenny FM, Linarelli L. Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son. Am J Dis Child 1966; 111 (02) 201-207
- 2 Caffey J. Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs—mother and son; coupled with transitory hypocalcemic tetany. Am J Roentgenol Radium Ther Nucl Med 1967; 100 (01) 1-11
- 3 Isojima T, Doi K, Mitsui J. , et al. A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. J Bone Miner Res 2014; 29 (04) 992-998
- 4 El Jabbour T, Aboursheid T, Keifo MB, Maksoud I, Alasmar D. Kenny-Caffey syndrome type 1. Avicenna J Med 2014; 4 (03) 74-76
- 5 Nikkel SM, Ahmed A, Smith A, Marcadier J, Bulman DE, Boycott KM. Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His. Clin Genet 2014; 86 (04) 394-395
- 6 Moussaid Y, Griffiths D, Richard B. , et al. Oral manifestations of patients with Kenny-Caffey Syndrome. Eur J Med Genet 2012; 55 (8-9): 441-445
- 7 Unger S, Górna MW, Le Béchec A. , et al. FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet 2013; 92 (06) 990-995
- 8 Majewski F, Rosendahl W, Ranke M, Nolte K. The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction. Eur J Pediatr 1981; 136 (01) 21-30
- 9 Lee WK, Vargas A, Barnes J, Root AW. The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy. Am J Med Genet 1983; 14 (04) 773-782
- 10 Larsen JL, Kivlin J, Odell WD. Unusual cause of short stature. Am J Med 1985; 78 (6 Pt 1): 1025-1032
- 11 Fanconi S, Fischer JA, Wieland P. , et al. Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one. J Pediatr 1986; 109 (03) 469-475
- 12 Bergada I, Schiffrin A, Abu Srair H. , et al. Kenny syndrome: description of additional abnormalities and molecular studies. Hum Genet 1988; 80 (01) 39-42
- 13 Fine DA, Rozenblatt-Rosen O, Padi M. , et al. Identification of FAM111A as an SV40 host range restriction and adenovirus helper factor. PLoS Pathog 2012; 8 (10) e1002949
- 14 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. Int J Pediatr Endocrinol 2017; 2017: 1
- 15 Timoney P, Darcy F, McCreery K, Reardon W, Brosnahan D. Characterization of optical coherence topography findings in Kenny-Caffey syndrome. J AAPOS 2007; 11 (03) 291-293
- 16 Sabry MA, Zaki M, Abul Hassan SJ. , et al. Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. J Med Genet 1998; 35 (01) 31-36
- 17 Franceschini P, Testa A, Bogetti G. , et al. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. Am J Med Genet 1992; 42 (01) 112-116
- 18 Frech RS, McAlister WH. Medullary stenosis of the tubular bones associated with hypocalcemic convulsions and short stature. Radiology 1968; 91: 457-461
- 19 Enriquez EJ, Toledo F, Bustamante-Cruz M, Cruz GM. Congenital medullary tubular stenosis. A case of Caffey-Kenny syndrome. Acta Orthop Scand 1988; 59 (03) 326-327
- 20 Abdel-Al YK, Auger LT, el-Gharbawy F. Kenny-Caffey syndrome. Case report and literature review. Clin Pediatr (Phila) 1989; 28 (04) 175-179
- 21 Boynton JR, Pheasant TR, Johnson BL, Levin DB, Streeten BW. Ocular findings in Kenny's syndrome. Arch Ophthalmol 1979; 97 (05) 896-900
- 22 Timoney P, Darcy F, McCreery K, Reardon W, Brosnahan D. Characterization of optical coherence topography findings in Kenny-Caffey syndrome. J AAPOS 2007; 11 (03) 291-293
- 23 Thomas JA, Rimoin DL, Lachman RS, Wilcox WR. Gracile bone dysplasia. Am J Med Genet 1998; 75 (01) 95-100
- 24 Eom TH, Kim YH, Kim JM. Recurrent seizures, mental retardation and extensive brain calcinosis related to delayed diagnosis of hypoparathyroidism in an adolescent boy. J Clin Neurosci 2015; 22 (05) 894-896