Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography.
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).


CONCLUSIONS
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.
Levaillant
Jean-Marc
JM
Obstetrics Centre, Hospitalier Intercommunal, Créteil, France. Levaillant.jean-marc@wanadoo.fr
Gérard-Blanluet
Marion
M
Holder-Espinasse
Muriel
M
Valat-Rigot
Anne-Sylvie
AS
Devisme
Louise
L
Cavé
Hélène
H
Manouvrier-Hanu
Sylvie
S
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging; D004487:Edema / Q000000981:diagnostic imaging; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D009634:Noonan Syndrome / Q000150:complications* / Q000000981:diagnostic imaging*; D048208:Nuchal Translucency Measurement; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D012867:Skin / Q000000981:diagnostic imaging / Q000196:embryology; D013577:Syndrome; D016216:Ultrasonography, Prenatal