Open AccessGenetic consultations in cases of unexplained fractures and haemorrhage: an evidence-based approach
Author(s) -
Natasha Shur,
Maxwell L Summerlin,
Nathaniel H. Robin,
Adam Moreno-Mendelson,
Eglal ShalabyRana,
Tanya S. Hinds
Publication year - 2020
Publication title -
current opinion in pediatrics, with evaluated medline/current opinion in pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.817
H-Index - 87
eISSN - 1080-8116
pISSN - 1040-8703
DOI - 10.1097/mop.0000000000000986
Subject(s) - medicine , child abuse , differential diagnosis , physical examination , genetic testing , pediatrics , medical genetics , genetic counseling , medical diagnosis , multidisciplinary approach , physical abuse , psychiatry , poison control , intensive care medicine , injury prevention , pathology , surgery , medical emergency , social science , biochemistry , chemistry , genetics , biology , sociology , gene
When infants and young children present with suspected physical abuse, it is critical to follow standard guidelines and rule out alternative causes of fracture and haemorrhage. A multidisciplinary team involved in the initial evaluation typically includes paediatrics, radiology, child protective services and/or law enforcement, and in complex cases, haematology, neurology, and genetics. A comprehensive genetics consultation includes review of the history of present illness, birth and past medical history, review of growth curves, family history, physical examination, radiological findings, and when indicated, biochemical and/ or genetic testing.