49 Skeletal Dysplasias Flashcards
Most frequent clinical complication of skeletal dysplasia, but is not uniformly present
Disproportionate short stature
T/F It is NOT important to obtain a full skeletal survey in patients with suspected skeletal dysplasias
F, it is important because distribution of affected and unaffected areas is key to making a specific diagnosis
T/F Most lethal and many nonlethal skeletal dysplasias can be identified on prenatal ultrasound
T
Patients with nonlethal skeletal dysplasia usually present to their physician for what chief complaint
Short stature
T/F Age at which growth failure occurs is not useful in developing a differential diagnosis for skeletal dysplasia/growth failure
F
T/F Most skeletal dysplasias are associated with a normal intellectual development
T
Skeletal dysplasia where there is a gross motor delay in the 1st 2 years of life
Achondroplasia
T/F In a child with joint pain lacking inflammatory signs, skeletal dysplasia should be considered even in the setting of NORMAL STATURE
T
Skeletal dysplasia where there is joint pain without signs of inflamm and stature can be normal
Multiple epiphyseal dysplasia
MC skeletal dysplasia
Achondroplasia
MC pattern of inheritance of skeletal dysplasias
Autosomal dominant
Anthropometrics of patients with achondroplasia
Large head, short stature
How to measure lower segment of the body
Symphysis pubis to floor
How to measure upper segment of the body
Total height minus lower segment
Cystic ear swelling is seen in what skeletal dysplasia
Diastrophic dysplasia
