Literature DB >> 7215388

The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.

F Majewski, W Rosendahl, M Ranke, K Nolte.   

Abstract

One family (3 cases) with the Kenny syndrome and a second family (3 cases) with features of Kenny syndrome but lacking medullary stenosis are reported. The main symptoms in both families are proportionate dwarfism, cortical thickening of tubular bones, variable anomalies of the calvaria, anemia, transient hypoparathyroidism and variable ocular anomalies. The latter include microphthalmia, and moderate-to-severe myopia or hyperopia. In the first family there was medullary stenosis of most tubular bones. In the second family two cases exhibited mild-to-moderate cortical thickening of tubular bones, but absent or mild medullary stenosis. Possible variability of the Kenny syndrome is discussed. Endocrine studies failed to demonstrate any permanent disturbance of parathormone or calcitonin metabolism, or GH deficiency. Pathogenesis remains unclear. Autosomal dominant inheritance seems to be likely.

Entities:  

Mesh:

Year:  1981        PMID: 7215388     DOI: 10.1007/bf00441706

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  4 in total

1.  Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son.

Authors:  F M Kenny; L Linarelli
Journal:  Am J Dis Child       Date:  1966-02

2.  Dwarfism and congenital medullary stenosis (Kenny syndrome).

Authors:  M G Wilson; R F Maronde; V G Mikity; N W Shinno
Journal:  Birth Defects Orig Artic Ser       Date:  1974

3.  Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs--mother and son; coupled with transitory hypocalcemic tetany.

Authors:  J Caffey
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1967-05

4.  Ocular findings in Kenny's syndrome.

Authors:  J R Boynton; T R Pheasant; B L Johnson; D B Levin; B W Streeten
Journal:  Arch Ophthalmol       Date:  1979-05
  4 in total
  7 in total

1.  Kenny-Caffey syndrome without the CATCH 22 deletion.

Authors:  T Yorifuji; J Muroi; A Uematsu
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

2.  Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

Authors:  M A Sabry; M Zaki; S J Abul Hassan; D G Ramadan; M A Abdel Rasool; S A al Awadi; Q al Saleh
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

Review 3.  Stunted growth with more or less normal appearance.

Authors:  J R Bierich; H Enders; U Heinrich; R Huenges; M B Ranke; D Schoenberg
Journal:  Eur J Pediatr       Date:  1982-12       Impact factor: 3.183

4.  Kenny syndrome: description of additional abnormalities and molecular studies.

Authors:  I Bergada; A Schiffrin; H Abu Srair; P Kaplan; J Dornan; D Goltzman; G N Hendy
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

5.  FAM111A mutations result in hypoparathyroidism and impaired skeletal development.

Authors:  Sheila Unger; Maria W Górna; Antony Le Béchec; Sonia Do Vale-Pereira; Maria Francesca Bedeschi; Stefan Geiberger; Giedre Grigelioniene; Eva Horemuzova; Faustina Lalatta; Ekkehart Lausch; Cinzia Magnani; Sheela Nampoothiri; Gen Nishimura; Duccio Petrella; Francisca Rojas-Ringeling; Akari Utsunomiya; Bernhard Zabel; Sylvain Pradervand; Keith Harshman; Belinda Campos-Xavier; Luisa Bonafé; Giulio Superti-Furga; Brian Stevenson; Andrea Superti-Furga
Journal:  Am J Hum Genet       Date:  2013-05-16       Impact factor: 11.025

Review 6.  Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.

Authors:  Simonetta Rosato; Sheila Unger; Belinda Campos-Xavier; Stefano Giuseppe Caraffi; Laura Beltrami; Marzia Pollazzon; Ivan Ivanovski; Marco Castori; Maria Paola Bonasoni; Giuseppina Comitini; Peter G J Nikkels; Kristin Lindstrom; Christine Umandap; Andrea Superti-Furga; Livia Garavelli
Journal:  Genes (Basel)       Date:  2022-01-28       Impact factor: 4.096

7.  Oral rehabilitation of a patient with Kenny-Caffey syndrome using telescopic overdenture.

Authors:  Abu Nazar; Roshy George; Nicholas Mathew
Journal:  J Indian Prosthodont Soc       Date:  2021 Apr-Jun
  7 in total

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