Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.

[wolf-hirschhorn syndrome]

Wolf-Hirschhorn syndrome (WHS ) is associated with facial dysmorphism including high forehead , high nasal bridge , hypertelorism and severe mental retardation . WHS results from a 4 p 16 .3 deletion . Only a small number of reports have been made on the prenatal ultrasound findings observed in WHS .H ere we report our experience on 10 cases of WHS ascertained prenatally between 1983 and 2009 through the CEMC-Auvergne registry of congenital malformations .The assumption that a "Greek warrior helmet " facies is pathognomonic of WHS could lead to misdiagnosis . Other clinical findings such as severe and early onset intrauterine growth retardation , facial dysmorphism (high forehead , high nasal bridge , low-set ears , micrognathia , hypertelorism ), atrial or ventricular septal defect , and renal dysplasia should help obstetricians to suspect the diagnosis of WHS prenatally .

Diseases
Validation

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adrenal incidentaloma

allergic bronchopulmonary aspergillosis

aromatase deficiency

cadasil

carcinoma of the gallbladder

cohen syndrome

cushing syndrome

dedifferentiated liposarcoma

dentinogenesis imperfecta

dracunculiasis

erdheim-chester disease

focal myositis

gm1 gangliosidosis

hodgkin lymphoma, classical

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

lamellar ichthyosis

legionellosis

liposarcoma

locked-in syndrome

malignant atrophic papulosis

oculocutaneous albinism

oligodontia

omenn syndrome

pleomorphic liposarcoma

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

thoracic outlet syndrome

triple a syndrome

waldenström macroglobulinemia

well-differentiated liposarcoma

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

zellweger syndrome

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