Proposed clinical approach and imaging studies in families with oculo-auriculo-vertebral spectrum to assess variable expressivity
Por:
Estandia-Ortega, Bernardette, Fernandez-Hernandez, Liliana, Alcantara-Ortigoza, Miguel Angel, Gonzalez-Del Angel, Ariadna
Publicada:
1 may 2022
Resumen:
A diagnosis of oculo-auriculo-vertebral spectrum (OAVS) is established
when microtia is present in association with hemifacial hypoplasia (HH)
and/or ocular, vertebral, and/or renal malformations. There is no
consensus on which imaging studies should be used to rule out variable
expressivity and distinguish ``sporadic'' from ``familial''
patients. This observational and descriptive study was performed in a
Mexican population of 51 patients (32 males, 19 females, 0-18 years old)
with microtia/OAVS, and their available parents. A clinical history,
genealogy, and physical examination were obtained from all included
patients, as were a computed tomography (CT) scan of the ear,
audiological evaluation, orthopantomography, complete spine radiography,
and renal ultrasound. The same approach was completed in their available
parents (51 mothers and 40 fathers), excluding the CT scan and
audiological evaluation. By genealogy, 53% of patients were classified
as ``sporadic''; of the ``familial'' patients, at least 79.1% had
suggestion of a multifactorial inheritance. In the available parents,
orthopantomography, complete spine X-ray, and renal ultrasound
identified the following OAVS-related manifestations: HH (16.2%, n =
14/86), vertebral alterations (10.9%, n = 10/91), and renal anomalies
(2.2%, n = 2/90). Our evaluation of the parents allowed three patients
to be reclassified from ``sporadic'' to ``familial'' (5.8%, n =
3/51). Our proposed clinical and imaging approach allowed the
identification of variable expressivity that more clearly distinguished
between ``sporadic'' and ``familial'' OAVS patients, which is of
utmost importance in providing proper genetic counseling to these
families.
Filiaciones:
Estandia-Ortega, Bernardette:
Inst Nacl Pediat, Subdirecc Invest Med, Lab Biol Mol, Ave Insurgentes 3700-C, Mexico City, DF, Mexico
Univ Nacl Autonoma Mexico, Unidad Posgrad, Posgrad Ciencias Biol, Circuito Posgrad S-N, Mexico City, DF, Mexico
Fernandez-Hernandez, Liliana:
Inst Nacl Pediat, Subdirecc Invest Med, Lab Biol Mol, Ave Insurgentes 3700-C, Mexico City, DF, Mexico
Alcantara-Ortigoza, Miguel Angel:
Inst Nacl Pediat, Subdirecc Invest Med, Lab Biol Mol, Ave Insurgentes 3700-C, Mexico City, DF, Mexico
Gonzalez-Del Angel, Ariadna:
Inst Nacl Pediat, Subdirecc Invest Med, Lab Biol Mol, Ave Insurgentes 3700-C, Mexico City, DF, Mexico
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