Paediatric Genetics Flashcards
What is the incidence of congenital anomalies?
Present in 3% of live births
Account for 20% of children’s hospital admissions and 30% of infant deaths
When are hand measurements useful and what are the different hand measurements?
Useful in conditions including Marfan’s and Down’s syndrome.
Finger length (measured as middle finger/total hand length)
Digital abnormalities
Palmar creases
What is syndactyly?
Fusion of the fingers
What is polysyndactyly?
Fusion of an extra toe to the toes
What is acrocephaly?
A tall forehead
What is arachnodactyly?
Long fingers
Middle finger/total hand length >44% indicates Marfans
What is a sequence?
A sequence is when one abnormality leads to another
What is Pierre-robin sequence?
A small chin leads to a cleft palate
What is fetal akinesia sequence?
Reduced fetal movement Reduced breathing Contractures Clefting Lung hypoplasia (may or may not be survivable)
What are deformations and disruptions?
Deformations and disruptions refer to an initially normal pattern of development that becomes abnormal. Deformations occur when the organ parts are present and disruptions occur when parts of an organ or body part are missing
What is an association?
An association is when there are two or more features occurring together more often than expected by chance
What is the VATER association?
Vertebral anomalies
Ano-rectal atresia
Tracheo-oesophageal fistula
Radial anomalies
What is a syndrome?
A syndrome is a distinct group of symptoms and signs which, when associated form a
characteristic clinical picture
What is the abnormality in Turner syndrome?
45X0
What are the main clinical features of Turner’s syndrome?
CLOWNS:
Cardiac abnormality- coarctation of aorta
Lymphoedema
Ovarian lack of development- amenorrhoea/infertility
Webbed neck
Nipples widely spaced
Short stature
