title: Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.
abstract: It is not unusual for patients with "rare" conditions, such as skeletal dysplasias, to remain undiagnosed until adulthood. In such cases, a pregnancy may unexpectedly reveal hidden problems and special needs. A 28 year old primigravida was referred to us at 17 weeks for counselling with an undiagnosed skeletal dysplasia with specific skeletal anomalies suggesting the collagen 2 disorder, spondyloperipheral dysplasia (SPD; MIM 156550).She was counselled about the probability of dominant inheritance and was offered a prenatal diagnosis by sonography. US examination at 17, 18 and 20 weeks revealed fetal macrocephaly, a narrow thorax, and shortening and bowing of long bones. The parents elected to continue the pregnancy. At birth the baby showed severe respiratory distress for four weeks which then resolved. Mutation analysis of both mother and child revealed a hitherto undescribed heterozygous nonsense mutation in the C-propeptide coding region of COL2A1 confirming the diagnosis of SPD while reinforcing the genotype-phenotype correlations between C-propeptide COL2A1 mutations and the SPD-Torrance spectrum. This case demonstrates the importance of a correct diagnosis even in adulthood, enabling individuals affected by rare conditions to be made aware about recurrence and pregnancy-associated risks, and potential complications in the newborn.
authors.affiliation: U.O.D. Genetica Medica, Dipartimento Salute della donna del bambino del neonato, Fondazione IRCCS Policlinico, Mangiagalli e Regina Elena, Milan, Italy. m.bedeschi@policlinico.mi.it
authors.forename: Maria Francesca
authors.initials: MF
authors.lastname: Bedeschi
authors.forename: Vera
authors.initials: V
authors.lastname: Bianchi
authors.forename: Barbara
authors.initials: B
authors.lastname: Gentilin
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Colombo
authors.forename: Federica
authors.initials: F
authors.lastname: Natacci
authors.forename: Sabrina
authors.initials: S
authors.lastname: Giglio
authors.forename: Elena
authors.initials: E
authors.lastname: Andreucci
authors.forename: Laura
authors.initials: L
authors.lastname: Trespidi
authors.forename: Barbara
authors.initials: B
authors.lastname: Acaia
authors.forename: Andrea Superti
authors.initials: AS
authors.lastname: Furga
authors.forename: Faustina
authors.initials: F
authors.lastname: Lalatta
mesh_terms: D002135:Calcium-Binding Proteins / Q000235:genetics*; D018389:Codon, Nonsense; D024043:Collagen Type II / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011248:Pregnancy Complications / Q000000981:diagnostic imaging* / Q000235:genetics*; D011296:Prenatal Diagnosis / Q000379:methods; D014463:Ultrasonography
chemical_list: C499177:COL2A1 protein, human; D002135:Calcium-Binding Proteins; D018389:Codon, Nonsense; D024043:Collagen Type II; C040072:chondrocalcin; D004247:DNA