Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the
Antigens
/ genetics
Consanguinity
Dwarfism
/ diagnostic imaging
Feeding and Eating Disorders
/ congenital
Fetal Growth Retardation
/ diagnostic imaging
Homozygote
Humans
Infant
Male
Microcephaly
/ diagnostic imaging
Nervous System Diseases
/ congenital
Osteochondrodysplasias
/ diagnostic imaging
Parenteral Nutrition
Rare Diseases
congenital disorders
developmental paediatrocs
genetics
neonatal health
paediatrics
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
30 May 2019
30 May 2019
Historique:
entrez:
2
6
2019
pubmed:
4
6
2019
medline:
18
12
2019
Statut:
epublish
Résumé
Microcephalic osteodysplastic primordial dwarfism syndrome II (MOPDII) is microcephalic primordial dwarfism and is a very rare form of disproportionate short stature. This disorder shares common features with other forms of microcephalic primordial dwarfism, including severe prenatal and postnatal growth retardation with marked microcephaly. However, it includes characteristic skeletal dysplasia, abnormal dentition and increased risk for cerebrovascular diseases. Recent reports added more features, including café-au-lait lesions, cutis marmorata, astigmatism, Moyamoya disease, insulin resistance, obesity, abnormal skin pigmentation and acanthosis nigricans around the neck. Clearly, the more MOPDII reports that are produced, the more information will be added to the spectrum of MOPDII features that can improve our understanding of this disorder. In this paper, we reported a new case of MOPDII with more severe clinical features, earlier onset of common features, in addition to a homozygous novel variant in the
Identifiants
pubmed: 31151966
pii: 12/5/e224197
doi: 10.1136/bcr-2018-224197
pmc: PMC6557317
pii:
doi:
Substances chimiques
Antigens
0
pericentrin
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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