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Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports.

Abstract Postnatal growth failure and progressive neurologic dysfunction and increasing multiorgan involvement are the main clinical features of Cockayne syndrome (CS). CS is a rare autosomal recessive disorder of the group of DNA repair diseases. Usually, genetic carriers, such as parents of patients, are not at risk for developing the disease.
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Authors

Mayor MeshTerms

Parents

Keywords
Journal Title medicine
Publication Year Start




PMID- 29390291
OWN - NLM
STAT- MEDLINE
DCOM- 20180212
LR  - 20180212
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 50
DP  - 2017 Dec
TI  - Are parents of children with Cockayne syndrome manifesting features of the
      disorder?: Case reports.
PG  - e8970
LID - 10.1097/MD.0000000000008970 [doi]
AB  - RATIONALE: Postnatal growth failure and progressive neurologic dysfunction and
      increasing multiorgan involvement are the main clinical features of Cockayne
      syndrome (CS). CS is a rare autosomal recessive disorder of the group of DNA
      repair diseases. Usually, genetic carriers, such as parents of patients, are not 
      at risk for developing the disease. PATIENT CONCERNS: A series of 14 family
      subjects (6 children with age range from 6 months to 4 years with CS) and 9
      parents (aged from 23 to 34 years) from consanguineous families is reported.
      DIAGNOSES: Ultraviolet irradiation studies were performed on these children and
      were indicative of CS. INTERVENTIONS: Cells of skin fibroblast from these
      children with the disease showed a symmetrical accumulation of chromosomal
      aberrations and the nuclear lamina aberrations. Our results showed a significant 
      and simultaneous increase of percent of blebbs and invaginations of the nuclear
      lamina in all cases CS. The pronounced changes in 12.6 times at atypical form
      (girl); in 8.5 times at severe form (boy) and in 5.6 times at light form (boy).
      Percentage of metaphases with chromosomal aberration is significantly higher in
      CS cells: in 4 times at atypical form, in 3 times at hard form, and in 2 times at
      light form. The parents of these families (consanguineous families) were
      intellectually variable between normal/borderline intelligence, though most
      manifested a constellation of skeletal and extraskeletal abnormalities and
      notably, the characteristic cachectic facial appearance. The parents were
      considered as manifesting the mild type of CS, because they showed no
      abnormalities of DNA repair. OUTCOMES: Clinical manifestations in heterozygote
      carriers of an autosomal recessive disorders is a rare phenomenon as carriers are
      usually healthy. LESSONS: The interesting finding of the families studied is that
      there appeared to be a multitude of carriers manifesting with normal to
      borderline intelligence but with a wide spectrum of skeletal and extraskeletal
      abnormalities.
CI  - Copyright (c) 2017 The Authors. Published by Wolters Kluwer Health, Inc. All
      rights reserved.
FAU - Al Kaissi, Ali
AU  - Al Kaissi A
AD  - Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA 
      Trauma Centre Meidling, First Medical Department, Hanusch Hospital.
AD  - Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria.
FAU - Kuranova, Mirya
AU  - Kuranova M
AD  - Department of Radiation and Cytology, Institute of Cytology RAS.
FAU - Pleskach, Nadezhda
AU  - Pleskach N
AD  - Department of Radiation and Cytology, Institute of Cytology RAS.
FAU - Kenis, Vladimir
AU  - Kenis V
AD  - Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders,
      Pediatric Orthopedic Institute n.a. H. Turner, Saint Petersburg, Russia.
FAU - Nassib, Nabil M
AU  - Nassib NM
AD  - Department of Paediatric Orthopaedics, Hopital d'Enfants, Tunis.
FAU - Grill, Franz
AU  - Grill F
AD  - Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria.
FAU - Ganger, Rudolf
AU  - Ganger R
AD  - Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria.
FAU - Gerit Kircher, Susanne
AU  - Gerit Kircher S
AD  - Institute of Medical Chemistry, Medical University of Vienna, Vienna, Austria.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
SB  - AIM
SB  - IM
MH  - Adult
MH  - Child, Preschool
MH  - Cockayne Syndrome/*genetics
MH  - Consanguinity
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Heterozygote
MH  - Humans
MH  - Infant
MH  - Intelligence
MH  - Male
MH  - *Parents
EDAT- 2018/02/03 06:00
MHDA- 2018/02/13 06:00
CRDT- 2018/02/03 06:00
PHST- 2018/02/03 06:00 [entrez]
PHST- 2018/02/03 06:00 [pubmed]
PHST- 2018/02/13 06:00 [medline]
AID - 10.1097/MD.0000000000008970 [doi]
AID - 00005792-201712150-00041 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Dec;96(50):e8970. doi: 10.1097/MD.0000000000008970.