The differential diagnosis of the short-limbed dwarfs presenting at birth.
Attention is drawn to the fact that in a number of types of short-limbed dwarfism a precise diagnosis can be made in the neonatal period. Examples are given and the prognostic and genetic implications are discussed. It is important to be able to advise parents of the likely outlook for the infant and of the genetic implication. Early diagnosis is therefore not merely an academic exercise.
D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis*; D005121:Extremities; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D011379:Prognosis