RESUMO
SUMMARY: We aimed to determine the width of the levator labii superioris alaeque nasi muscle (LLSAN) at the level of the nasal ala through cadaveric dissections and ultrasonography (US), to provide essential anatomical information for use during both invasive and noninvasive procedures in the nasal ala region. The LLSAN was investigated in the 40 hemifaces of 20 Korean cadavers, comprising 10 males and 10 females with a mean age of 73.6 years. The LLSAN width of the 40 specimens at the level of the midpoint of the nasal ala was 5.02±2.35 mm (mean±standard deviation), and ranged from 1.45 mm to 10.11 mm. The LLSAN widths were 5.96±2.36 mm and 3.93±1.89 mm in males and females, respectively, with ranges of 2.40-10.11 mm and 1.45-6.96 mm, respectively. The LLSAN widths on the left and right sides were 4.77±2.72 mm and 5.26±1.99 mm, respectively. The proportions of the LLSAN fibers inserting into the nasal ala and upper lip were similar in 13 specimens (32.5 %), while more fibers inserted into the nasal ala in 11 specimens (27.5 %) and more fibers inserted fibers of the LLSAN into the upper lip in 16 specimens (40 %). When clinicians need to target or avoid the LLSAN, the present width and range data can be helpful for ensuring the efficacy and safely of both invasive and noninvasive procedures. In addition, the possibility of asymmetry in the width of the LLSAN in the nasal ala region should be confirmed by US before performing such procedures.
Nuestro objetivo fue determinar el ancho del músculo elevador nasolabial (MENL) a nivel del ala nasal mediante disecciones cadavéricas y ecografía, para proporcionar información anatómica esencial, para su uso durante procedimientos invasivos y no invasivos, en la región del ala nasal. El MENL se estudió en 40 hemicaras de 20 cadáveres coreanos (10 hombres y 10 mujeres) con una edad media de 73,6 años. El ancho de MENL de las 40 muestras a nivel del punto medio del ala nasal fue de 5,02 ± 2,35 mm (media ± desviación estándar) y osciló entre 1,45 mm y 10,11 mm. Los anchos de MENL fueron 5,96 ± 2,36 mm y 3,93 ± 1,89 mm en hombres y mujeres, respectivamente, con rangos de 2,40 a 10,11 mm y 1,45 a 6,96 mm, respec- tivamente. Los anchos de MENL en los lados izquierdo y derecho fueron 4,77 ± 2,72 mm y 5,26 ± 1,99 mm, respectivamente. Las proporciones de fibras de MENL que se insertaban en el ala nasal y en el labio superior fueron similares en 13 muestras (32,5 %), mientras que se insertaron más fibras en el ala nasal en 11 muestras (27,5 %) y además, se insertaron fibras de MENL en el labio superior en 16 ejemplares (40 %). Cuando los médicos necesitan apuntar o evitar el MENL, los datos actuales de ancho y rango pueden ser útiles para garantizar la eficacia y seguridad de los procedimientos, tanto invasivos como no invasivos. Además, la ecografía puede ser utilizada para confirmar una posible asimetría en el ancho del MENL en la región del ala nasal antes de realizar los procedimientos.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Nariz/diagnóstico por imagem , Músculos Faciais/diagnóstico por imagem , Cadáver , Nariz/anatomia & histologia , Ultrassonografia , Músculos Faciais/anatomia & histologiaRESUMO
BACKGROUND: Holoprosencephaly (HPE) is a spectrum of midline malformations of the prosencephalon generally reflected in a continuum of midline facial anomalies. Patients with mutation in the ZIC2 gene usually present a normal or mildly dysmorphic face associated with a severe brain malformation. Here we present a rare unilateral nasal cleft (Tessier cleft n. 1) with holoprosencephaly in a patient with a ZIC2 mutation. CASE: The male newborn presented with alobar HPE, microcephaly, ocular hypertelorism, upslanting palpebral fissures, a bulky nose with a left paramedian alar cleft. Mutational screening for HPE genes revealed the occurrence of a frameshift mutation in the ZIC2 gene. The mutation was inherited from the father who presented only mild ocular hypotelorism but had an affected child with HPE from his first marriage. CONCLUSION: The occurrence of oral clefts is common in patients with HPE, but unusual in patients with mutation in the ZIC2 gene. To our knowledge, clefts of the nasal alae have been reported only once or twice in patients with ZIC2 mutations. In documented patients from the literature, only 2% of individuals with described pathogenic mutations in the ZIC2 gene (3/171) presented facial clefts, one of them a nasal cleft, while common oral clefts were observed in 27% of individuals (7/26) described with nonpathogenic ZIC2 mutations or presenting a concomitant mutation in another HPE gene. When compared with the general population, nasal clefts are common in ZIC2 mutations and these mutations must be searched for in undiagnosed cases.