Literature DB >> 7406361

[Diaphysary tubular stenosis (Kenny-Caffey's syndrome): presentation of four observations (author's transl)].

A Sarría, F Toledo, J Toledo, M L Vega, S López, M Bueno.   

Abstract

Four new observations of diaphysary tubular stenosis or Kenny-Caffey's syndrome are studied, the first in the spanish literature. They belong to two unrelated families. Cases 1 and 2 are a son and his mother; cases 3 and 4 are first cousins of, apparently, normal consanguineous parents. In the last two cases hypocalcemic tetany of recurrent evolution and congenital glaucoma were verified. For the purpose of this serie a revision is made of the cases reported on the literature. They are a total of eight observations, including the cases studied in this paper. A discussion is made, especially, on the genetic mechanism of this skeletal dysplasia, which in cases 3 and 4 present remarkable peculiarities.

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Year:  1980        PMID: 7406361

Source DB:  PubMed          Journal:  An Esp Pediatr        ISSN: 0302-4342


  2 in total

1.  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 2.  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

  2 in total

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