Thanatophoric dysplasia Variant in Identical Saudi Twins; Prenatal Diagnosis and Genetic Analysis
نویسندگان
چکیده
منابع مشابه
Thanatophoric dysplasia in identical twins.
Female twins concordant for thanatophoric dysplasia are presented. Monozygosity was confirmed using minisatellite DNA genetic fingerprinting. The evidence supporting new dominant mutations as the likely cause of thanatophoric dysplasia is reviewed.
متن کاملThanatophoric dysplasia.
Two autopsy cases of thanatophoric dysplasia in male newborn infant are described. They have markedly short-limbs and narrow thoraxes. Histologically, generalized disruption of endochondral ossification with normal resting cartilage was seen at the epiphyseal region of femur. Differential diagnosis from other 3 types of lethal chondrodysplasia is described and the histogenesis of thanatophoric ...
متن کاملSafe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA
OBJECTIVE To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. METHODS Fetuses with a confirmed diagnosis of thanatophoric dysplasia were ascertained, records reviewed, sonogra...
متن کاملWhy aren't identical twins linguistically identical? Genetic, prenatal and postnatal factors.
Results of twin studies clearly demonstrate that genetic factors play an important role in the rate of language acquisition and linguistic proficiency attained by normal and impaired children and adults [see Stromswold, K. (2001). The heritability of language: A review and meta-analysis of twin, adoption and linkage studies. Language, 77, 647-723.]. That said, twin-based heritability estimates ...
متن کاملThanatophoric Dysplasia in Newborn Twins:Case Report and Literature Review
Thanatophoricdysplasia (TD) isanosteochondrodysplasiaalwayslethalintheneonatalperiod. Thevastmajorityofcasesareduetodenovomutations. Itisdividedintotwotypes: ashortcurvedfemurcharacterizestype 1, whileastraighterfemurwithcloverleafskullcharacterizestype 2. Inthanatophoricdysplasiathelimbsareveryshort. Theribcageissmall. Thevertebralbodiesofthespinearegreatlyreducedinheightwithwidespacesbetwee...
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ژورنال
عنوان ژورنال: Journal of Taibah University Medical Sciences
سال: 2009
ISSN: 1658-3612
DOI: 10.1016/s1658-3612(09)70106-4