title: Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia.
abstract: Geleophysic dysplasia is a rare, autosomal recessive disorder which causes disproportionate short stature associated with severe physical handicaps, but is compatible with survival into adulthood. We present a case, a first-born child, where genetic counselling difficulties arose following ultrasound recognition of short-limbed dwarfism in association with polyhydramnios and an initial incorrect prenatal diagnosis of lethal chondrodysplasia. After birth of the surviving affected infant, the parents had great difficulty accepting that there had been a prenatal misdiagnosis and they were greatly disappointed by our inability to predict the postnatal survival of an infant to whom no hope of life had previously been given. The correct diagnosis was not made until the proband was nearly 1 year old, and the true prognosis then became clearer. This experience underlines the relative ease of prenatal recognition of skeletal growth abnormalities compared with the considerable difficulties experienced in reaching a precise diagnosis. Thus, following prenatal diagnosis of unspecified chondrodysplasia when parents seek definite information about the prognosis, the temptation to be either overpessimistic or overoptimistic should be avoided.
authors.affiliation: Royal Hospital for Sick Children, Yorkhill, Glasgow, U.K.
authors.forename: A C
authors.initials: AC
authors.lastname: Rennie
authors.forename: G
authors.initials: G
authors.lastname: Stewart
authors.forename: M
authors.initials: M
authors.lastname: Whiteford
authors.forename: T
authors.initials: T
authors.lastname: Johnston
authors.forename: J L
authors.initials: JL
authors.lastname: Tolmie
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D003951:Diagnostic Errors; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics; D019066:Facies; D005808:Genes, Recessive; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D011296:Prenatal Diagnosis / Q000379:methods*; D011379:Prognosis