6533b854fe1ef96bd12af586
RESEARCH PRODUCT
Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: Prenatal diagnosis, clinical and pathological findings
L. GiuffreGiovanni CorselloEmiliano MaresiEttore CittadiniCinzia Rossisubject
AdultMaleThanatophoric DysplasiaThanatophoric dysplasiaLong bonePrenatal diagnosisUltrasonography PrenatalPregnancyDiseases in TwinsmedicineHumansFemurPathologicalGenetics (clinical)Pregnancybusiness.industrySkullCloverleaf skullTwins MonozygoticAnatomymedicine.diseaseHydrocephalusmedicine.anatomical_structureDysplasiaFemalebusinessHydrocephalusdescription
We present male monozygotic twins with thanatophoric dysplasia (TD) type I concordant for long bone abnormalities and discordant for cloverleaf skull. The twins were the product of the second pregnancy of unrelated parents, with advanced paternal age. Prenatal diagnosis and postmortem examination showed severe rhizomelic shortness of limbs, bowing of the long bones with "telephone-receiver" femora in both twins, and cloverleaf skull and hydrocephalus in one of them. It is now accepted that most of cases of TD, such as in the present report, represent an autosomal dominant mutation with a high new mutations rate.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1992-01-01 | American Journal of Medical Genetics |