Congenital medullary tubular stenosis A case of Caffey-Kenny syndrome

Enriquez, E.; Toledo, Francisco; Bustamante-Cruz, Martha; Cruz, G Mogollón

doi:10.3109/17453678809149375

Cited by 10 publications

(5 citation statements)

References 4 publications

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“…closure of the anterior fontanelle are common features. 1,[8][9][10][11][12][18][19][20] Polysyndactyly was rarely described. 3 Regarding craniofacial findings, macrocephaly, facial hypoplasia, prominent forehead, micrognathia, and dental anomalies have been reported in KCS.…”

Section: Discussionmentioning

confidence: 99%

Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2

et al. 2020

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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.

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Section: Discussionmentioning

confidence: 99%

Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2

et al. 2020

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“…Recently, Unger et al found that FAM111A is responsible for the autosomal dominant form (type 2; OMIM 127000) (1). The initial paper on KCS was of a mother and son described by Kenny and Linarelli (3), but there have been few other parent-to-child transmissions (4)(5)(6). Its expression is strongly cell-cycle dependent and present in the cytoplasm and nucleus, suggesting that it may be involved in gene transcription (2).…”

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confidence: 99%

“…Its expression is strongly cell-cycle dependent and present in the cytoplasm and nucleus, suggesting that it may be involved in gene transcription (2). The initial paper on KCS was of a mother and son described by Kenny and Linarelli (3), but there have been few other parent-to-child transmissions (4)(5)(6).…”

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confidence: 99%

Mother‐to‐daughter transmission of Kenny–Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His

et al. 2013

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“…Clinical features of our patient compared to the literature reports[5,7,8,[12][13][14][15] There are also different clinical features in Kenny-Caffey syndrome type 2 concerning development disorders in various organs.…”

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confidence: 59%

“…In some cases, there is also apparent papilledema. Enriquez et al [15] reported a case of a 6-year old girl who suffered from bilateral congenital cataracts. In the examination of the fundus of the eye, the optic disc was elevated and swollen with tortuous and dilated retinal vessels.…”

Section: A B Figurementioning

confidence: 99%

A rare cause of short stature: Kenny-Caffey syndrome type 2 – a case report and literature review

Kaleta¹,

Zapolnik²,

Mazur³

et al. 2020

polp

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Kenny-Caffey syndrome type 2 is a very rare disease characterized by short stature, skeleton and eye abnormalities, hypoparathyroidism, hypocalcemia, and normal intellectual development. It is caused by a mutation in the FAM111A gene and inherited in an autosomal dominant way. It occurs at a frequency of 1 : 1 000 000. Less than 100 cases had been described to date. Treatment in this disease is only symptomatic and the use of growth hormone does not give satisfying effects. We present a case of a 12-year-old boy with short stature, hypoparathyroidism, hypothyroidism, and hyperopia. The next-generation sequencing study revealed a mutation (R569H) in one allele of the above-mentioned gene. On the basis of the clinical picture and special investigations results, Kenny-Caffey syndrome type 2 was diagnosed.

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Congenital medullary tubular stenosis A case of Caffey-Kenny syndrome

Cited by 10 publications

References 4 publications

Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2

Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2

Mother‐to‐daughter transmission of Kenny–Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His

A rare cause of short stature: Kenny-Caffey syndrome type 2 – a case report and literature review

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