Lethal multiple pterygium syndrome.
BMJ Case Rep
; 12(5)2019 May 08.
Article
in En
| MEDLINE
| ID: mdl-31068350
ABSTRACT
Multiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits and fingers. We present a case of lethal multiple pterygium syndrome born at our hospital proven by the genetic analysis showing a double homozygous mutation.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Skin Abnormalities
/
Abnormalities, Multiple
/
Metalloendopeptidases
/
Receptors, Nicotinic
/
Malignant Hyperthermia
/
Mutation
Type of study:
Diagnostic_studies
Limits:
Humans
/
Male
/
Newborn
Language:
En
Journal:
BMJ Case Rep
Year:
2019
Document type:
Article
Affiliation country:
Arabia Saudita