ABSTRACT
Otocephaly is a rare lethal neurocristopathy of first branchial arch, characterized by agnathia (agenesis of mandible), ventro-medial displacement and midline fusion of external ears (synotia), microstomia (small mouth) and aglossia (absence of tongue) or microglossia (small tongue). This anomaly is a consequence of failure of migration of neural crest cells from hind brain which contributes to the development of maxillary and mandibular prominences of the first arch. A female fetus of 28weeks gestation, spontaneously aborted, was received for autopsy. On external examination, the fetus exhibited ventrally placed malformed ears in the neck region, agnathia, microstomia and microglossia. Internal examination revealed situs inversus totalis, atrial septal defect and bilateral absence of mandibular nerves. Our case is unique, and here rendered for publication, due to association of otocephaly with situs inversus totalis in the absence of holoprosencephaly. We discuss current perspectives, literature review and molecular mechanisms implicated in otocephaly complex patterning.
ABSTRACT
Presentar dos casos de otocefalia. Caso 1. Paciente de 32 años de edad, II gesta, I para, con embarazo de 25 semanas, en control en el servicio de alto riesgo obstétrico del Instituto Autónomo Hospital Universitario de Los Andes por antecedente de embarazo con producto malformado. En estudio ecográfico se encontró feto con microcefalia. Se atendió parto por vía vaginal a las 29 semanas, y se obtuvo recién nacido vivo, sexo masculino, con microcefalia y malformaciones en la región facial tipo otocefalia y aprosopia, el cual muere a los pocos minutos de nacido. Caso 2. Paciente de 39 años, VI gesta, IV paras, I aborto, con embarazo de 27 semanas por fecha de última menstruación. Le fue practicada hemilaringectomía durante la tercera semana de embarazo, bajo anestesia endovenosa. A las 27 semanas, se practica ecosonograma y se encontró polihidramnios, meroanencefalia y quistes aracnoideos. Después de parto a las 28 semanas, se obtiene recién nacido vivo, de sexo femenino, con microcefalia y malformaciones faciales dadas por otocefalia y aprosopia, y muere a los dos minutos de nacida. A ambos productos se les realizó estudio morfológico en la Cátedra de Embriología de la Universidad de Los Andes.
To present two cases of otocephaly. Case 1: Patient of 32 years of age, gravida II, I delivery, with a 25 weeks pregnancy, in prenatal care at the service of high obstetrical risk of the "Instituto Autonomo Hospital Universitario de Los Andes", for history of previous pregnancy with a malformed product. The ultrasound study reported fetal microcephaly. She had a premature delivery at 29 weeks, obtaining an alive male new born, with microcephaly and facial malformations like otocephaly and aprosopia, that dies after few minutes of been born. Case 2. Patient of 39 years, gravida VI, V deliveries, I abortion, with pregnancy of 27 weeks for last menstrual period. She had a hemilaringectomy during the third week of pregnancy, under endovenous anesthesia. The ultrasound study at 27 weeks revealed polihydramnios, meroanencephaly and arachnoid cysts. After premature labor at 28 weeks, a female alive new born, with microcephaly and face malformations given by otocefalia and aprosopia was obtained, and dies two minutes after been born. Morphological study was performed to both products in Embriology Unit of The University of Los Andes.