Prenatal forehead edema in 4p- deletion: the ‘Greek warrior helmet’ profile revisited

Levaillant, Jean‐Marc; Touboul, C.; Sinico, M; Vergnaud, A.; Serero, Stéphane; Druart, Luc; Blondeau, Jean-Robert; Alsamad, Issam Abd; Haddad, Bassam; Gérard-Blanluet, Marion

doi:10.1002/pd.1246

Cited by 18 publications

(32 citation statements)

References 17 publications

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“…The nose is coracoid. Those characteristics are more pronounced during infancy [22,23]. Cleft defects are observed in almost half of the cases [24].…”

Section: Facial and Dental Featuresmentioning

confidence: 96%

“…Some suggestions of WHS might occur with the observation of developmental retardation [22]. The final diagnosis is stated on the basis of a genetic examination.…”

Section: Differential Diagnosismentioning

confidence: 99%

“…The prenatal diagnosis can be very difficult. Observation of prefrontal edema and other facial anomalies in fetus associated with growth retardation (even a borderline) should alert a gynecologist to investigate the 4p-deletion [22].…”

Section: Differential Diagnosismentioning

confidence: 99%

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Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Paradowska-Stolarz¹

2014

Adv Clin Exp Med

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Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics concern facial features. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Another characteristic feature is microcephalia with micrognathia. The features are more pronounced in infants. Clefts of lip and/or palate are observed in almost half of the cases. The characteristic thing is that the more genetic material is missing, the more pronounced are the dimorphic features of the syndrome. Mostly, the dental status does not differ much from that of the healthy individuals. It had been proven though that WHS-patients are more prone to anomalies in dental structures. Cone-shaped and taurodontic teeth were observed. Multiple tooth agenesis (mainly at premolars and molars) with over-retained deciduous dentition might be associated with MSX1-gene impairment (Adv Clin Exp Med 2014, 23, 3, 485-489).

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“…The nose is coracoid. Those characteristics are more pronounced during infancy [22,23]. Cleft defects are observed in almost half of the cases [24].…”

Section: Facial and Dental Featuresmentioning

confidence: 96%

“…Some suggestions of WHS might occur with the observation of developmental retardation [22]. The final diagnosis is stated on the basis of a genetic examination.…”

Section: Differential Diagnosismentioning

confidence: 99%

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Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Paradowska-Stolarz¹

2014

Adv Clin Exp Med

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“…Classic facial dysmorphism features of WHS are a small nose with a high nasal bridge, hypertelorism, large and protruding eyes, a short philtrum with deep-set grooves, and maxillary hypoplasia. 5 Using 2D ultrasonography, hypertelorism and maxillary hypoplasia can be diagnosed by measuring the distance between the eyes and the maxillary length, respectively. However, a small nose with a high nasal bridge, large and protruding eyes, and a short philtrum with deep-set grooves, which are important phenotypic aspects of the Greek warrior helmet appearance, a pathognomonic feature of WHS, may not be easily depicted using conventional 2D ultrasonography, especially in an edematous fetus as in our case.…”

Section: Case Reportmentioning

confidence: 99%

“…3,4 In neonates, a distinct facial feature is the Greek warrior helmet appearance of the face, which has been considered pathognomonic for WHS. [4][5][6] Defi nite diagnosis is made by chromosome study using G-banding conventional cytogenetic testing or fl uorescence in situ hybridization (FISH). [4][5][6][7] The characteristic facial dysmorphism is an important clue for the diagnosis of WHS, so three-dimensional (3D) ultrasonography offers the possibility for accurate diagnosis of this condition.…”

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confidence: 99%

Three-dimensional sonographic features of a fetus with Wolf-Hirschhorn syndrome

et al. 2008

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We present a case of fetal Wolf-Hirschhorn syndrome diagnosed by conventional two-dimensional and three-dimensional ultrasonography. Conventional two-dimensional ultrasonography revealed a diaphragmatic hernia, nuchal edema, and suspected hypospadias. Three-dimensional ultrasonography clearly showed a flattening of the face, a high forehead, a broad nasal bridge continuing to the forehead, exophthalmos, and micrognathia (resembling the appearance of a Greek warrior helmet), but conventional two-dimensional ultrasonography did not depict these findings. Prenatal chromosomal analysis confirmed the diagnosis of Wolf-Hirschhorn syndrome [46XY, del(4)(p15.2)]. Here we demonstrate how three-dimensional ultrasonography provided a novel visual depiction of the facial dysmorphism, which helped substantially in prenatal counseling.

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Prenatal ultrasound findings observed in the Wolf‐hirschhorn syndrome: Data from the registry of congenital malformations in auvergne

Debost‐Legrand¹,

Goumy²,

Laurichesse‐Delmas

et al. 2013

Birth Defects Research

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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.

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Prenatal forehead edema in 4p- deletion: the ‘Greek warrior helmet’ profile revisited

Cited by 18 publications

References 17 publications

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Three-dimensional sonographic features of a fetus with Wolf-Hirschhorn syndrome

Prenatal ultrasound findings observed in the Wolf‐hirschhorn syndrome: Data from the registry of congenital malformations in auvergne

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