Prenatal diagnosis · 2006
Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Levaillant Jean-Marc, Gérard-Blanluet Marion, Holder-Espinasse Muriel, Valat-Rigot Anne-Sylvie, Devisme Louise, Cavé Hélène, Manouvrier-Hanu Sylvie
Аннотация
BACKGROUND: Prenatal diagnosis of multiple congenital anomalies is difficult, and usually molecular biology cannot immediately confirm the suspected syndrome. Fetal dysmorphology is useful tool in the diagnosis process, with limitations.
METHODS: We report the thorough prenatal investigation by 2D and 3D ultrasonography in a case of suspected Costello syndrome.
RESULTS: Prenatal abnormalities were: increased nuchal translucency, polyhydramnios, bilateral pyelectasis and ventriculomegaly. Ultrasonographic morphological fetal face analysis found abnormal thickness of the skin in the prefrontal area, thick dysplastic ears, thick lips and deep-set creases in the hands and feet. As Costello and Noonan syndromes overlap, a PTPN11 analysis was done, with presence of a mutation (T854C).
CONCLUSION: Prenatal overlap of feature of severe Noonan syndrome and Costello syndrome is confirmed, with dysmorphological similarities, due to edema of fetal skin in face and extremities.
METHODS: We report the thorough prenatal investigation by 2D and 3D ultrasonography in a case of suspected Costello syndrome.
RESULTS: Prenatal abnormalities were: increased nuchal translucency, polyhydramnios, bilateral pyelectasis and ventriculomegaly. Ultrasonographic morphological fetal face analysis found abnormal thickness of the skin in the prefrontal area, thick dysplastic ears, thick lips and deep-set creases in the hands and feet. As Costello and Noonan syndromes overlap, a PTPN11 analysis was done, with presence of a mutation (T854C).
CONCLUSION: Prenatal overlap of feature of severe Noonan syndrome and Costello syndrome is confirmed, with dysmorphological similarities, due to edema of fetal skin in face and extremities.