1999-05-16-21 Acromesomelic dysplasia © Jeanty www.thefetus.net/
Philippe Jeanty, MD, PhD & Sandra R Silva, MD
Definition: Non lethal short stature and short limbs dysplasia that, as implied by the name, affects the forearms, hands, and feet. The radius is bowed. The wrist bones and phalanges are particularly short and square,,,.
Etiology: Autosomal recessive for the regular and the severe form of acromesomelic dysplasia (Hunter-Thompson type (AMDH) which is due to a different cartilage-derived morphogenetic protein (CDMP),.
Diagnosis: The diagnosis is suggested by the finding for abnormal forearms and lower legs and abnormal hands and feet. The rest of the skeleton is not affected
Genetic anomalies: Acromesomelic dysplasia is caused by mutation in cartilage-derived morphogenetic protein-1 (CDMP-1) on chromosome 20.
Differential diagnosis: Mesomelic dwarfism, Grebe chondrodysplasia (only in a specific group of patient from a certain region of Brazil), Nager syndrome (but these have micrognathia).
Prognosis: Intellectual development has been reported normal, and the orthopedic handicap is the major concern in these children3,.
Management: Termination of pregnancy can be offered before viability. Standard prenatal care is not altered when continuation the pregnancy is opted for. Confirmation of diagnosis after birth is important for genetic counseling.
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