Search results for "Thanatophoric dysplasia"

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Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: Prenatal diagnosis, clinical and pathological findings

1992

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.

AdultMaleThanatophoric DysplasiaThanatophoric dysplasiaLong bonePrenatal diagnosisUltrasonography PrenatalPregnancyDiseases in TwinsmedicineHumansFemurPathologicalGenetics (clinical)Pregnancybusiness.industrySkullCloverleaf skullTwins MonozygoticAnatomymedicine.diseaseHydrocephalusmedicine.anatomical_structureDysplasiaFemalebusinessHydrocephalusAmerican Journal of Medical Genetics
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The Skull in Achondroplasia

1988

The growth disorder in achondroplasia results from abnormalities of endochondral bone formation. Cranial abnormalities originate from the occipital bone, the only region where enchondral bone is formed.

musculoskeletal diseasescongenital hereditary and neonatal diseases and abnormalitiesMuscular hypotoniaThanatophoric dysplasiabusiness.industryOccipital boneAnatomymedicine.diseaseEndochondral bone formationSkullmedicine.anatomical_structuremedicineAchondroplasiabusinessJugular foramen
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