Variants in the por gene have been identified in patients with skeletal and craniofacial features of abs who also have genital anomalies andor disordered steroidogenesis, whereas variants in the fgfr2 gene have been identified in. Article information, pdf download for multidisciplinary treatment of antleybixler. Orphanet is a european reference portal for information on rare diseases and orphan drugs. Antley bixler syndrome is a rare form of craniosynostosis characterized by unique clinical features that present particular challenges to longterm treatment. We report four cases with this disorder, all of which had craniosynostosis, midface hypoplasia with characteristic facial appearance, and contractures of bilateral elbow joints. Abs was first reported in 1975 2 and was initially thought to be. A sister and brother both with the clinical and radiographic features of antleybixler syndrome are reported. The first case of the antleybixler syndrome with a. We report a rare case of antleybixler syndrome prenatally diagnosed at 26 weeks gestation by ultrasound and computed tomography in a 28yearold woman with a history of early termination of pregnancy for malposition of the inferior limbs. To date, less than 100 cases have been reported in the literature. Antley and bixler defined the syndrome on the basis of one case in 1975. Summary the antleybixler syndrome is a rare disorder characterized by craniosynostosis, midface hypoplasia, radiohumeral synostosis, joint contractures, arachnodactyly, and femoral bowing and fractures. Multiple malformation syndrome following fluconazole use in pregnancy. To report a case of type 2 antleybixler syndrome abs.
Primary features include significant craniosynostosis, midface hypoplasia with choanal stenosis or atresia, femoral bowing, radiohumeral synostosis. In addition to the craniosynostosis and joint ankylosis which are the clinical hallmarks of. However, studies illustrate that approximately onethird of the affected individuals with this disorder are alive. Antley bixler syndrome genetic and rare diseases information. Analysis of these siblings and seven other patients. The antleybixler syndrome comprises malformations of cartilage and bone. The antleybixler syndrome abs is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. Antley bixler syndrome, also called trapezoidocephalysynostosis syndrome, is a rare, very severe autosomal recessive congenital disorder characterized by. Pdf antleybixler syndrome from a prognostic perspective. Antleybixler syndrome, also called trapezoidocephalysynostosis syndrome, is a rare, very severe. Yes are approved or conditionally approved by new york state and do not require an nys npl exemption.
Antley bixler syndrome is characterized by bicoronal craniosynostosis rarely lambdoid and metopic and radiohumeral synostosis. Xtrapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Pdf antleybixler syndrome abs is rare form of craniosynostosis of both autosomal dominant and autosomal recessive inheritance. Prenatal diagnosis of antleybixler syndrome and por deficiency article pdf available in american journal of case reports 16. The prenatal ultrasound scan showed severe femoral bowing and frontal bossing. This report describes a newborn boy with antleybixler ab syndrome. Antleybixler syndrome is a rare form of craniosynostosis. Click on the link to view a sample search on this topic. The antleybixler syndrome abs is characterized by craniosynostosis, radiohumeral synostosis, and femoral bowing. Help others answering the top 25 questions of antley bixler syndrome.
Pdf prenatal diagnosis of antleybixler syndrome and por. Gross motor function of a child with antleybixler syndrome. This case report describes the physical therapy pt care of a child with particularly complex abs. Antleybixler syndrome is a type of complex craniosynostosis named after the doctors who first described it. Antleybixler syndrome, is a rare, very severe autosomal recessive congenital disorder. Antleybixler syndrome is an extremely rare craniosynostosis syndrome, resulting from a mutation in one of two genes. Antleybixler syndrome abs was first described by ray antley and david bixler in 1975. Chapter 158 covers antleybixler syndrome mim 201750, including major clinical findings, radiographic features, and differential diagnoses. This is a page where parents and children can come to share information and realize that they are not alone.
Antleybixler syndrome without genital anomalies and disordered. However, patients with this phenotype have been reported with a new dominant mutation at the fgfr2 locus as well as in the offspring of mothers taking the antifungal agent fluconazole during early pregnancy. There is a wide spectrum of anomalies seen in abs, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Antleybixler syndrome has an autosomal recessive pattern of inheritance. Pubmed is a searchable database of medical literature and lists journal articles that discuss antley bixler syndrome. August 1982 the journal of p e d i a t r i c s 201 the antleybixler syndrome three unrelated children two girls and one boy with the antleybixler syndrome have been evaluated, bringing to five the number of patients reported with this disorder. Antleybixler syndrome abs is a rare congenital malformation syndrome associated with midface hypoplasia, bilateral radiohumeral synostosis, multiple joint contractures, femoral bowing, long bone fractures and, occasionally, urogenital or cardiac defects 1. Prenatal diagnosis of antleybixler syndrome and por. Linking antleybixler syndrome and congenital adrenal hyperplasia. Antleybixler syndrome abs caused by p450 oxidoreductase deficiency pord is a congenital adrenal hyperplasia with skeletal. Antley bixler syndrome is an extremely rare craniosynostosis syndrome, resulting from a mutation in one of two genes.
Antleybixler syndrome abs is a rare congenital malformation syndrome associated with midface hypoplasia, bilateral radiohumeral synostosis, multiple joint contractures, femoral bowing, long bone fractures and, occasionally, urogenital or cardiac defects. Evidence for digenic inheritance in some cases of antley. General angley antleybixler syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial craniofacial area and additional skeletal abnormalities. Antley bixler syndrome an overview sciencedirect topics.
Antley bixler syndrome, is a rare, very severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body. Antleybixler syndrome is a rare genetic disorder that can cause structural changes of the skull, bones of the face and other skeletal abnormalities. Our analysis of akhenatens kindred revealed 2 abnormalities. As well as the skull, the arms may also be affected. The essential signs are a dysmorphic facies with flattening of the central region of the face, humeroradial synostosis with flexed attitude of the upper limbs and swelling of the distal interphalangeal and metacarpophalangeal articulations. People with moderate cytochrome p450 oxidoreductase deficiency usually do not have skeletal abnormalities. Our patient differs from the usual presentation by the presence of radioulnar rather than a radiohumeral synostosis. Antleybixler syndrome has the specific features as brachycephaly, craniosynostosis, midface hypoplasia, depressed nasal bridge, proptosis, dysplastic ears, upper respiratory obstruction. Home test catalog by disorder az antleybixler syndrome abs antleybixler syndrome abs new york clients. Top 25 questions of antley bixler syndrome discover the top 25 questions that someone asks himselfherself when is diagnosed with antley bixler syndrome antley bixler syndrome forum.
Antleybixler syndromealso called trapezoidocephalysynostosis syndrome1 is a rare, very severe autosomal recessive 2 congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body. Antlia constellation antlia constellation antlia constellation. This page from great ormond street hospital gosh explains the causes, symptoms and treatment of antleybixler syndrome. Antleybixler syndrome without genital anomalies and disordered steriodogenesis. Antleybixler syndrome does not have a good outcome. Novel phenotypes and genotypes in antleybixler syndrome. Hormonal changes in affected males and females lead to the development of. Antleybixler syndrome dictionary of medical eponyms.
Access to the complete content on oxford medicine online requires a subscription or purchase. Antley bixler syndrome abs is a rare condition characterized by radiohumeral synostosis, craniosynostosis, midface hypoplasia, bowing of the femora, multiple joint contractures, and urogenital. Antleybixler syndrome how is antleybixler syndrome. Antleybixler syndrome nord national organization for rare. Antleybixler syndrome in a sister and brother journal. We are reporting a female term appropriate for gestational age newborn with clinical features of frontal bossing, brachycephaly, proptosis, synostosis of radioulnar joints, hemangioma over nose and philtrum, hydrocephalus suggestive of abs. Antleybixler syndrome nord national organization for. A case of antleybixler syndrome pubmed central pmc. Antleybixler syndrome how is antleybixler syndrome abbreviated. Definition of antleybixler syndrome phenotype in the dictionary. Antley bixler syndrome top 25 questions antley bixler. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for antley bixler syndrome.
The syndrome is rare and characterized by abnormalities of bone and cartilage development syndrome of multisynostotic osteogenesis. Other findings include a trapezoidshaped head, deformed ears, severe midface hypoplasia, choanal atresiaor stenosis, and long bone. Antley bixler syndrome pdf new pdf download service. Current literature focuses on medical and surgical care without an emphasis on rehabilitation. Trapezoidocephaly, midface hypoplasia, and cartilage abnormalities with multiple synostenoses and skeletal fractures. The severe form of cytochrome p450 oxidoreductase deficiency is sometimes called antleybixler syndrome with genital anomalies and disordered steroidogenesis. Bixler syndrome abs is an autosomal recessive trait disorder characterized by multiple bone and cartilaginous abnormalities.
In addition, the child had a fgfr1 0t mutation, which has. Multidisciplinary treatment of antleybixler syndrome r. Antley bixler syndrome 46 apoptosis 627, 884, 891 arachidonic acid aa 881 archaea 267269 arnt 550, 554, 555 aromatase 87, 180, 858 aromatic hydroxylation 142, 143, 147, 452, 582, 583 artemisinic acid 457, 490, 503 arx aryl amine 193 atomic force microscopy 10. The antleybixler syndrome 1 was brought to our attention as a possible explanation for our findings. Antleybixler syndrome, also called trapezoidocephalysynostosis syndrome, is a rare, very severe autosomal recessive. Ab syndrome is a rare disorder characterized mainly by craniosynostosis and multiple joint contractures including radiohumeral synostosis. Regardless of whether the clinical genetics community agrees to discard eponyms in favor of a term such as fgfr hyperactivity, we believe that por deficiency, which is a newly described monogenic disease, should be dissociated from the term antleybixler syndrome. Antleybixler syndrome, also called trapezoidocephalysynostosis syndrome, is a rare, very severe autosomal recessive congenital disorder characterized by.
The antleybixler syndrome the journal of pediatrics. Sonographic diagnosis of antleybixler pordtype syndrome. Antleybixler syndrome abs is a rare condition characterized by radiohumeral synostosis, craniosynostosis, midface hypoplasia, bowing of the femora, multiple joint contractures, and urogenital. Antleybixler syndrome abs is rare form of craniosynostosis of both autosomal dominant and autosomal recessive inheritance. Antleybixler syndrome absconsisting of abs type 1 skeletal only and abs type 2, associated with cytochrome 450 mutations and p450 oxidoreductase deficiency pordabsis a heterogeneous syndrome with a constellation of skeletal deformation findings that classically include skull, facial, and appendicular defects. Information and translations of antleybixler syndrome phenotype in the most comprehensive dictionary definitions resource on.
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