Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome.

BACKGROUND: Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. Patients affected by the disease present abnormalities in ectoderm-derived structures mainly consisting in major facial dysmorphic features and rarely in visceral anomalies. The only laryngo-tracheal defect reported is malacia, with no reference to any anatomical stenosis. We describe a unique case of laryngo-tracheal stenosis in a woman, with genetically confirmed AMS currently followed at our Department. CASE PRESENTATION: A 37-year-old Caucasian woman was admitted to the intensive care unit for acute dyspnea that required orotracheal intubation followed by tracheostomy. The bronchoscopy revealed abnormal tracheal tissue at the level of the cricoid and the first three tracheal rings reducing airway caliber by 80% (grade III according to the Cotton-Meyer classification). Treatment of the stenosis by means of temporary tracheostomy and corticosteroids therapy resulted in airway patency restoration and patient's return to her normal activities. Bronchoscopy at four and five months showed disappearance of the abnormal tissue and a residual anatomical laryngo-tracheal stenosis of about 20% (grade I according to the Cotton-Meyer classification) of the normal airway caliber. CONCLUSIONS: To our knowledge, this is the first patient affected by AMS presenting with laryngo-tracheal stenosis.

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.

Ablepharon macrostomia syndrome (AMS; OMIM 200110) is an extremely rare congenital malformation syndrome. It overlaps clinically with Fraser syndrome (FS; OMIM 219000), which is known to be caused by mutations in either FRAS1, FREM2, or GRIP1, encoding components of a protein complex that plays a role in epidermal-dermal interactions during morphogenetic processes. We explored the hypothesis that AMS might be either allelic to FS or caused by mutations in other genes encoding known FRAS1 interacting partners. No mutation in either of these genes was found in a cohort of 11 patients with AMS from 10 unrelated families. These findings demonstrate that AMS is genetically distinct from FS. It is proposed that it constitutes a separate entity within the group of FRAS-FREM complex disorders.

Macrostomía bilateral aislada congénita / Congenital isolated bilateral macrostomia

Introducción. Dentro de las malformaciones craneofaciales, la macrostomía bilateral aislada es una de las malformaciones más inhabituales, con una frecuencia del 0,3% de los niños con fisuras faciales. Consiste en una hendidura orofacial entre el maxilar superior y el inferior derivada de una alteración del primer arco branquial. Su etiología es desconocida, pero una de las teorías más establecidas es el error de fusión entre el maxilar superior y el inferior durante el desarrollo embrionario. Suele aparecer de manera aislada, sin estar asociada a otros defectos, en contraposición a la macrostomía unilateral, que normalmente forma parte de un síndrome específico. Observación clínica. Exponemos el caso de un recién nacido de sexo femenino que presenta a la exploración un alargamiento bilateral de la comisura bucal de un centímetro de longitud mostrando una apertura amplia, sin otra malformación externa asociada. Todas las exploraciones complementarias que se realizaron para detectar malformaciones asociadas fueron normales. La evolución el periodo neonatal fue correcta, salvo una succión débil en las primeras horas de vida que desapareció progresivamente. Comentarios. Es importante realizar una minuciosa exploración física y diferentes exploraciones complementarias, como ecografía transfontanelar y abdominal, serie ósea y ecocardiograma para encontrar otras anormalidades, en especial si es de presentación unilateral. El tratamiento es quirúrgico con una evolución favorable y donde el proceso de deglución y fonación está conservado(AU)

Introduction. Isolated bilateral macrostomia is one of the rarest malformations within the craniofacial defects, with a frequency of 0.3% of children with facial clefts. It is defined by the presence of an orofacial cleft between the upper and lower jawbone caused by an alteration of the first branchial arch. Its etiology is unknown but one of the most established theories is the error of fusion between upper and lower jaw during embryonic development. Usually it appears isolated, without being associated with other defects, in contrast to unilateral macrostomia, which most often presents in the context of a specific syndrome. Case report. We describe the case of a female newborn that presented a bilateral one-centimeter elongation of the mouth, showing a large opening without other associated external malformations. Imaging studies excluded internal malformations. The evolution was optimal in the neonatal period except for a weak suction in the first hours of life that gradually improved. Comments. In the presence of macrostomia, it is important to perform a thorough evaluation, including physical examination and imaging studies such as transfontanellar and abdominal ultrasound, echocardiography and skeletal series to evaluate for other abnormalities, especially in cases of unilateral presentation. Surgical treatment usually results in successful outcome with preservation of swallowing and phonation(AU)

Ablepharon-macrostomia syndrome.

We report three new cases of ablepharon-macrostomia syndrome (AMS) and give a 10-year follow-up on a newborn reported in an abstract. These four patients, as well as those previously reported, all had absent hair, brows, and lashes, absent or short eyelids, macrostomia, ear anomalies, redundant skin, and abnormal genitalia. Many have persistent visual problems, often related to early corneal exposure. Hearing loss, poor hair growth, finger contractures, and growth retardation were also chronic problems. Developmental impairment was present in two-thirds of patients but was usually mild. This report contributes to our knowledge regarding the natural history of AMS and includes the first report of an adult patient. It also adds further evidence that AMS is distinct from Barber-Say syndrome, which has similar features.