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Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome: A literature review on this rare progeroid pathology.

Abstract Mulvihill-Smith syndrome is a rare sporadic condition that was first recognized in 1975. A total of 11 cases have been described in the literature. The aim of this study was to describe the orofacial signs and dental anomalies, their frequency, and the relationship between Mulvihill-Smith syndrome and other progeroid syndromes via a review of the literature.
PMID
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Authors

Mayor MeshTerms

Craniofacial Abnormalities

Growth Disorders

Mouth Abnormalities

Nevus, Pigmented

Progeria

Tooth Abnormalities

Keywords
Journal Title medicine
Publication Year Start




PMID- 29718885
OWN - NLM
STAT- MEDLINE
DCOM- 20180509
LR  - 20180509
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 97
IP  - 18
DP  - 2018 May
TI  - Orofacial signs and dental abnormalities in patients with Mulvihill-Smith
      syndrome: A literature review on this rare progeroid pathology.
PG  - e0656
LID - 10.1097/MD.0000000000010656 [doi]
AB  - BACKGROUND: Mulvihill-Smith syndrome is a rare sporadic condition that was first 
      recognized in 1975. A total of 11 cases have been described in the literature.
      The aim of this study was to describe the orofacial signs and dental anomalies,
      their frequency, and the relationship between Mulvihill-Smith syndrome and other 
      progeroid syndromes via a review of the literature. METHODS: A systematic PubMed 
      search was performed to retrieve articles published between 1975 and the present 
      day that described patients affected by Mulvihill-Smith syndrome. The search
      identified 14 articles, and data on 11 patients were extracted from the selected 
      articles. RESULTS: A total of 7 patients (63.6%) affected by Mulvihill-Smith
      syndrome were described as having a typical "bird" face. Dental abnormalities,
      including irregular shape, enamel defects, hypodontia, and taurodontism, were
      described in 6 patients (54.5%). All patients (100%) had multiple pigmented nevi 
      on the face and a lack or thinning of subcutaneous tissue around the neck and
      face. Three patients with Mulvihill-Smith syndrome exhibited early onset of
      tumors of the gastrointestinal tract, including the tongue. CONCLUSION:
      Mulvihill-Smith syndrome is a clinically complex disease that may be caused by a 
      single gene mutation. Numerous different tissues of the body are affected. This
      analysis of the orofacial signs may help clinicians to diagnose this rare
      pathology.
FAU - Passarelli, Pier Carmine
AU  - Passarelli PC
AD  - Department of Oral Surgery and Implantology, Catholic University of Sacred Heart 
      of Rome, Gemelli Hospital.
FAU - Pasquantonio, Guido
AU  - Pasquantonio G
AD  - Department of Clinical Sciences and Translational Medicine, University of Rome
      Tor Vergata, Rome, Italy.
FAU - Manicone, Paolo Francesco
AU  - Manicone PF
AD  - Department of Oral Surgery and Implantology, Catholic University of Sacred Heart 
      of Rome, Gemelli Hospital.
FAU - Cerroni, Loredana
AU  - Cerroni L
AD  - Department of Clinical Sciences and Translational Medicine, University of Rome
      Tor Vergata, Rome, Italy.
FAU - Condo', Roberta
AU  - Condo' R
AD  - Department of Clinical Sciences and Translational Medicine, University of Rome
      Tor Vergata, Rome, Italy.
FAU - Mancini, Manuele
AU  - Mancini M
AD  - Department of Clinical Sciences and Translational Medicine, University of Rome
      Tor Vergata, Rome, Italy.
FAU - D'Addona, Antonio
AU  - D'Addona A
AD  - Department of Oral Surgery and Implantology, Catholic University of Sacred Heart 
      of Rome, Gemelli Hospital.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - Progeria short stature pigmented nevi
SB  - AIM
SB  - IM
MH  - *Craniofacial Abnormalities
MH  - Diagnosis, Differential
MH  - *Growth Disorders/diagnosis/physiopathology
MH  - Humans
MH  - *Mouth Abnormalities
MH  - *Nevus, Pigmented/diagnosis/physiopathology
MH  - *Progeria/diagnosis/physiopathology
MH  - *Tooth Abnormalities
EDAT- 2018/05/03 06:00
MHDA- 2018/05/10 06:00
CRDT- 2018/05/03 06:00
PHST- 2018/05/03 06:00 [entrez]
PHST- 2018/05/03 06:00 [pubmed]
PHST- 2018/05/10 06:00 [medline]
AID - 10.1097/MD.0000000000010656 [doi]
AID - 00005792-201805040-00053 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2018 May;97(18):e0656. doi: 10.1097/MD.0000000000010656.