10 results found
Case
Achondroplasia - fetal diagnosis
Published
18 Jul 2018
91% complete
Ultrasound
Article
SADDAN syndrome
SADDAN syndrome is an acronym for severe achondroplasia with developmental delay and acanthosis nigricans. It is an extremely rare condition, and as the name states, comprises a combination of skeletal, brain and cutaneous anomalies.
Pathology
Genetics
The syndrome results from a mutation in ...
Article
Thanatophoric dysplasia
Thanatophoric dysplasia is a lethal skeletal dysplasia. It is the most common lethal skeletal dysplasia followed by osteogenesis imperfecta type II.
Epidemiology
The estimated incidence is around 1:25,000-50,000 3.
Associations
polyhydramnios 4
Pathology
Subtypes
There are two recognized...
Article
Narrow fetal thorax
A narrow fetal thorax on antenatal ultrasound can be present with a number of anomalies which include:
achondrogenesis
campomelic dysplasia
homozygous achondroplasia
Jarcho-Levin syndrome
Jeune syndrome - asphyxiating thoracic dysplasia
Russell-Silver dwarfism
short rib polydactyly syndro...
Article
Rhizomelic dwarfism
Rhizomelic dwarfism is a type of dwarfism where the dominant feature is proximal (i.e. femoral and humeral) limb shortening.
Epidemiology
Associations
certain types of atelosteogenesis
diastrophic dysplasia
kyphomelic dysplasias
Pathology
Classification
The following conditions fall unde...
Article
Achondrogenesis
Achondrogenesis refers to a group of rare and extreme skeletal dysplasias.
Epidemiology
The estimated incidence is 1:40,000, with no recognized gender predilection.
Pathology
It is classified as an osteochondrodysplasia, meaning deficiency of both bone and cartilage development. The conditio...
Article
Skeletal dysplasia
Skeletal dysplasia (also known as osteochondrodysplasia) refers to any abnormality in bone formation. There is a very wide clinicopathological spectrum and any part of the skeleton can be affected.
Epidemiology
The overall prevalence is estimated at ~2 per 10,000 live births 3.
Pathology
Typ...
Article
Megalencephaly
Megalencephaly is a disorder characterized by an abnormally large brain. It is primarily a proliferative disorder of embryonic origin. It may involve all or part of the cerebral hemispheres and can be bilateral or unilateral. It is often associated with polymicrogyria or agyria.
Terminology
...
Article
Frontal bossing
Frontal bossing is a calvarial radiographic feature where the front of the skull appears protruding anteriorly. It is best appreciated on a sagittal or lateral image.
Pathology
This feature can be seen in many conditions (in alphabetical order):
18q syndrome
acromegaly
achondroplasia
ß-tha...
Article
Robinow syndrome
Robinow syndrome is a rare heterogeneous genetic disorder with at least two distinct forms.
Terminology
Fetal face syndrome and Robinow-Silverman syndrome are the other synonyms for this genetic disorder. Formerly it was known as costovertebral segmentation defect with mesomelia 8.
Epidemiolo...
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