Antley-Bixler Syndrome, Description of Two New Cases and Review of the Literature

Abstract

Objective: Antley-Bixler syndrome (ABS) is a rare disorder characterized by multiple malformations of cartilage and bone including multisynostotic osteodysgenesis, midface hypoplasia, choanal atresia or stenosis, femoral bowing, neonatal fractures and multiple joint contractures and, occasionally, urogenital, gastrointestinal or cardiac defects. Since the first report in 1975, at least 34 cases (including this report) have been described. We present 2 cases of congenital hydrocephalus, suggesting the cause of craniosynostosis and midface hypoplasia is associated with ABS. Clinical Presentation: The first case was a 1-day-old female with Arnold-Chiari malformation, multiple cranial synostosis, obstructive hydrocephalus and radioulnahumeral synostosis. Ventriculoperitoneal (V-P) shunting was performed when she was 7 days old. She died 42 days later due to cardiopulmonary failure. The second case was a 2-month-old female with bilateral coronal synostosis, obstructive hydrocephalus and brachycephaly. V-P shunting was done soon after her admission, and bilateral lateral canthal advancement with the floating forehead procedure was performed 1 month later. She is still alive with good development. Discussion: The main anomalies of the ABS can be divided into 4 categories: craniofacial, skeletal, extremity and urogenital anomalies. They may be the result of mutation in the fibroblast growth factor receptor 2 (Ser351Cys) gene, which was confirmed in our case 2. Craniosynostosis combined with hydrocephalus created congenital increased intracranial pressure (IICP). Early V-P shunt implantation and surgical release of the closed suture and lateral canthal advancement should be done as soon as possible, ideally when the patient is younger than 3 months. Conclusion: Early correction of craniosynostosis was feasible and safe for one of our patients. We offer our experience in the treatment of hydrocephalus and correction of craniosynostosis to relieve IICP.

Otologic findings in Antley–Bixler syndrome: A clinical and radiologic case report

“…Additionally, with respect to this patient's clinical situation of bilateral conductive hearing loss, chronic otitis media, and very stenotic external auditory canals, bone-anchored hearing aide (BAHA) implantation is an important consideration for amplification as compliance may improve over standard hearing aids. Second, the management of chronic otitis media is likely to be necessary in quite of a number of these patients as there has been elevated incidence between otitis media with effusion and choanal atresia [8] and as previously reported there is a 56% incidence of choanal atresia/stenosis associated with the syndrome [6]. Third, patients with ABS may have severely malformed middle ear structures including ossicular malformations, absence of the oval window, or tegmen tympani dehiscence as described in this patient.…”

“…The otolaryngologic manifestations of ABS have previously been reviewed, however, mention of otologic disease was limited to noting that the patient's ears were sometimes dysplastic with atresia of the external auditory canals [5]. Lee et al found that 33 of the 34 cases reviewed had dysmorphic ears [6]. Bottero et al and Lee et al found the incidence of stenotic external auditory canals in ABS as 27 and 35%, respectively [1,6].…”

“…Lee et al found that 33 of the 34 cases reviewed had dysmorphic ears [6]. Bottero et al and Lee et al found the incidence of stenotic external auditory canals in ABS as 27 and 35%, respectively [1,6]. No studies have addressed the middle or inner ear malformations that may be present in the syndrome.…”

Reoperation for Chiari Malformations

“…Of the 9 patients in the entire series within this category, 5 were undergoing reoperations. The association of Chiari malformation and craniosynostosis has been previously reported [8, 9, 10, 11, 12]. This association is probably related not only to mechanical distortion and compression in the posterior fossa by inadequate skull growth, but also to intracranial hypertension caused by chronic elevation of intracranial venous pressure, as proposed by Thompson et al [8], and in some patients to hydrocephalus.…”

POR R457H is a global founder mutation causing Antley–Bixler syndrome with autosomal recessive trait

“…Antley-Bixler syndrome (ABS, OMIM 207410) is a congenital malformation syndrome characterized mainly by craniosynostosis and radiohumeral synostosis [Bottero et al, 1997;Lee et al, 2001]. There are two types of ABS: an autosomal dominant form and an autosomal recessive form.…”