PMID- 37295610
OWN - NLM
STAT- MEDLINE
DCOM- 20230727
LR  - 20230727
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 66
IP  - 8
DP  - 2023 Aug
TI  - Paediatric survivors beyond infancy with Stuve-Wiedemann syndrome - A case series 
      from the West Midlands, UK.
PG  - 104788
LID - S1769-7212(23)00094-0 [pii]
LID - 10.1016/j.ejmg.2023.104788 [doi]
AB  - Stuve-Wiedemann Syndrome (STWS) is an autosomal recessive condition caused by 
      variants in the LIFR gene, presenting with respiratory failure, hyperthermia and 
      skeletal dysplasia in the neonatal period. Historically identified as a lethal 
      condition, more children are now managed holistically from early in life with 
      multidisciplinary team involvement with improved outcomes. This stems from early 
      diagnosis, supported by molecular testing in the pre and postnatal periods. This 
      report includes five such cases with survival in childhood to 10 years old in the 
      UK affected by skeletal abnormalities, hyperthermia, respiratory distress and 
      their diagnostic odyssey. All cases have a molecular diagnosis; two patients 
      (family 1) were found to be homozygous for a novel pathogenic LIFR variant 
      NM_002310.5:c.704G > A, p.(Trp235Ter). One patient (family 2) is compound 
      heterozygous with the previously reported LIFR variant NM_002310.5:c.756dup 
      p.(Lys253Ter), and a second novel variant NM_002310.5:c.397+5G > A. Two patients 
      (family 3) are homozygous for one of the same LIFR variants NM_002310.5:c.756dup 
      p.(Lys253Ter) as in family 2. This report discusses genotypic and phenotypic data 
      for five patients with STWS, as well as the need for multi-disciplinary, 
      proactive management and genetic counselling.
CI  - Copyright (c) 2023 Elsevier Masson SAS. All rights reserved.
FAU - McDermott, Helen
AU  - McDermott H
AD  - Birmingham Women's and Children's NHS Foundation Trust, Clinical Genetics 
      Department, Birmingham, Birmingham, UK. Electronic address: 
      helen.mcdermott@nhs.net.
FAU - Simmonds, Jennifer
AU  - Simmonds J
AD  - Leeds Teaching Hospitals NHS Trust, North East and Yorkshire Genomic Laboratory 
      Hub Central Laboratory, Ashley Wing, St James's University Hospital, Leeds, UK.
FAU - Thyagarajan, Manigandan
AU  - Thyagarajan M
AD  - Birmingham Women's and Children's NHS Foundation Trust, Radiology Department, 
      Birmingham Children's Hospital, Steelhouse Lane, Birmingham, UK.
CN  - Genomics England Research Consortium
FAU - Islam, Lily
AU  - Islam L
AD  - Birmingham Women's and Children's NHS Foundation Trust, Clinical Genetics 
      Department, Birmingham, Birmingham, UK.
FAU - Naik, Swati
AU  - Naik S
AD  - Birmingham Women's and Children's NHS Foundation Trust, Clinical Genetics 
      Department, Birmingham, Birmingham, UK.
FAU - Titheradge, Hannah
AU  - Titheradge H
AD  - Birmingham Women's and Children's NHS Foundation Trust, Clinical Genetics 
      Department, Birmingham, Birmingham, UK.
LA  - eng
PT  - Journal Article
DEP - 20230607
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - 0 (Leukemia Inhibitory Factor Receptor alpha Subunit)
RN  - Stuve-Wiedemann syndrome
SB  - IM
MH  - Infant, Newborn
MH  - Child
MH  - Humans
MH  - Infant
MH  - Leukemia Inhibitory Factor Receptor alpha Subunit/genetics
MH  - Mutation
MH  - *Osteochondrodysplasias/diagnosis/genetics
MH  - United Kingdom
OTO - NOTNLM
OT  - Bowing of femur
OT  - Hyperpyrexia (hyperthermia)
OT  - Neonatal respiratory distress
OT  - Recurrent infections
OT  - Short stature
OT  - Stuve-wiedemann syndrome
OT  - Tibia
COIS- Declaration of competing interest No conflict of interest or funding
EDAT- 2023/06/10 15:13
MHDA- 2023/07/27 06:42
CRDT- 2023/06/09 19:25
PHST- 2022/07/19 00:00 [received]
PHST- 2023/03/23 00:00 [revised]
PHST- 2023/05/25 00:00 [accepted]
PHST- 2023/07/27 06:42 [medline]
PHST- 2023/06/10 15:13 [pubmed]
PHST- 2023/06/09 19:25 [entrez]
AID - S1769-7212(23)00094-0 [pii]
AID - 10.1016/j.ejmg.2023.104788 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2023 Aug;66(8):104788. doi: 10.1016/j.ejmg.2023.104788. Epub 
      2023 Jun 7.