Lethal multiple pterygium syndrome

Farzeen Shuaib Mohtisham; Adel Sallam; Aiman Shawli

doi:10.1136/bcr-2018-229045

Lethal multiple pterygium syndrome

BMJ Case Rep. 2019 May 8;12(5):e229045. doi: 10.1136/bcr-2018-229045.

Authors

Farzeen Shuaib Mohtisham^{1

2}, Adel Sallam^{1

2}, Aiman Shawli^{2

3}

Affiliations

¹ Department of Pediatrics, Neonatology Division, National Guard Hospital Affairs, King AbdulAziz Medical City, Jeddah, Saudi Arabia.
² King Abdullah International Medical Research Center, Jeddah, Saudi Arabia.
³ Department of Pediatrics, Clinical Genetics, National Guard Hospital Affairs, King AbdulAziz Medical City, Jeddah, Saudi Arabia.

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.

Keywords: congenital disorders; genetic screening / counselling; musculoskeletal syndromes; neonatal intensive care.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics*
Abnormalities, Multiple / physiopathology
Consanguinity
DNA Mutational Analysis
Disease Susceptibility
Fatal Outcome
Genetic Counseling
Genetic Heterogeneity
Humans
Infant, Newborn
Male
Malignant Hyperthermia / diagnosis*
Malignant Hyperthermia / genetics*
Malignant Hyperthermia / physiopathology
Metalloendopeptidases / genetics*
Mutation*
Pedigree
Receptors, Nicotinic / genetics*
Skin Abnormalities / diagnosis*
Skin Abnormalities / genetics*
Skin Abnormalities / physiopathology

Substances

CHRNG protein, human
Receptors, Nicotinic
ECEL1 protein, human
Metalloendopeptidases

Supplementary concepts

Multiple pterygium syndrome