Aicardi syndrome (AIC) is a rare congenital neurodevelopmental disorder of unknown etiology, that affects almost exclusively females, originally characterized by corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. The current diagnostic criteria also include qualitative facial features (prominent premaxilla, upturned nasal tip, decreased nasal bridge angle, sparse lateral eyebrows, and microphthalmia) that still need quantification. A three‐dimensional (3D) photogrammetric assessment of 11 Italian females, age 7–32 years, who satisfied AIC criteria, was performed. Linear distances and angles were computed from soft‐tissue facial landmarks coordinates. The z‐score values were calculated using data of 850 healthy reference females matched for age and compared by Mann–Whitney test (p < .01). Patients showed a shorter philtrum and right side orbital height (mean z‐scores: −1.7, −0.9), shorter superior, middle, and inferior facial depths (mean z‐scores: −1.3, −2.2, −2.3), and a smaller length of mandibular ramus (mean z‐score: −2.1); conversely, they showed larger nasal and lower facial widths, and lower facial convexity (mean z‐scores: 1.7, 1.4, 2.4). The inclinations of the orbit versus the true horizontal were increased bilaterally (mean z‐scores: 1.8, 1.1). Some common facial abnormalities were quantified in AIC patients using a noninvasive instrument. They may help clinicians in performing a definite AIC diagnosis in atypical or doubt cases.

3D facial morphometry in Italian patients affected by Aicardi syndrome / S. Masnada, D.M. Gibelli, C. Dolci, V. De Giorgis, A. Cappella, P. Veggiotti, C. Sforza. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 182A:10(2020 Oct), pp. 2325-2332. [10.1002/ajmg.a.61791]

3D facial morphometry in Italian patients affected by Aicardi syndrome

Daniele Gibelli;Claudia Dolci;Annalisa Cappella;Pierangelo Veggiotti;Chiarella Sforza
2020-10

Abstract

Aicardi syndrome (AIC) is a rare congenital neurodevelopmental disorder of unknown etiology, that affects almost exclusively females, originally characterized by corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. The current diagnostic criteria also include qualitative facial features (prominent premaxilla, upturned nasal tip, decreased nasal bridge angle, sparse lateral eyebrows, and microphthalmia) that still need quantification. A three‐dimensional (3D) photogrammetric assessment of 11 Italian females, age 7–32 years, who satisfied AIC criteria, was performed. Linear distances and angles were computed from soft‐tissue facial landmarks coordinates. The z‐score values were calculated using data of 850 healthy reference females matched for age and compared by Mann–Whitney test (p < .01). Patients showed a shorter philtrum and right side orbital height (mean z‐scores: −1.7, −0.9), shorter superior, middle, and inferior facial depths (mean z‐scores: −1.3, −2.2, −2.3), and a smaller length of mandibular ramus (mean z‐score: −2.1); conversely, they showed larger nasal and lower facial widths, and lower facial convexity (mean z‐scores: 1.7, 1.4, 2.4). The inclinations of the orbit versus the true horizontal were increased bilaterally (mean z‐scores: 1.8, 1.1). Some common facial abnormalities were quantified in AIC patients using a noninvasive instrument. They may help clinicians in performing a definite AIC diagnosis in atypical or doubt cases.
3D; Aicardi syndrome; face, neurology; stereophotogrammetry;
Settore BIO/16 - Anatomia Umana
Settore MED/39 - Neuropsichiatria Infantile
15-ago-2020
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Article (author)
File in questo prodotto:
File Dimensione Formato  
Aiacardi_20-0389_R1_clean_IRIS.pdf

accesso aperto

Tipologia: Pre-print (manoscritto inviato all'editore)
Dimensione 313.6 kB
Formato Adobe PDF
313.6 kB Adobe PDF Visualizza/Apri
ajmg.a.61791.pdf

non disponibili

Tipologia: Publisher's version/PDF
Dimensione 1.34 MB
Formato Adobe PDF
1.34 MB Adobe PDF   Visualizza/Apri   Richiedi una copia
ajmg.a.61791.pdf

non disponibili

Tipologia: Publisher's version/PDF
Dimensione 1.34 MB
Formato Adobe PDF
1.34 MB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/758218
Citazioni
  • ???jsp.display-item.citation.pmc??? 1
  • Scopus 4
  • ???jsp.display-item.citation.isi??? 4
social impact