Ballergerold syndrome is a rare condition characterized by the premature fusion of certain skull bones craniosynostosis and abnormalities of bones in the arms and hands people with ballergerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. Search for recql4 mutations in 39 patients genotyped for. Common features of bgs include a distinctive misshaped appearance of the skull, facial craniofacial area and bones of the forearms and hands. Ballergerold syndrome bgs is a rare genetic disorder, also referred to as craniosynostosisradial aplasia syndrome, which was first described independently by baller 1 in 1950 and gerold 2 in. Ballergerold syndrome bgs can be suspected at birth in an infant.
Characterization of a new syndrome that associates. Ballergerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies oligodactyly, aplasia or hypoplasia of the thumb. Our index patient is an african american female who was referred for evaluation because of imperforate anus and dysmorphic features. Their patient also had bilateral conductive hearing loss. Case report radial, renal and craniofacial anomalies. The recql4 gene has an important role in maintaining the stability of dna, the instruction manual for the body. Death occurred after two hours owing to a prolonged apnoeic spell. The purpose of this report is to describe the findings in two additional cases that further delineate. Ballergerold syndrome bgs is a rare autosomal recessive condition with radial aplasiahypoplasia and craniosynostosis omim. Gerold syndrome associated with congenital hydrocephalus. Pdf ballergerold syndrome associated with congenital. Baller gerold syndrome meaning baller gerold syndrome definition baller gerold syndrome explanation.
This is also associated with rothmundthomson syndrome and baller gerold syndrome. This case raises the question as to whether the baller gerold syndrome can be considered as a distinct entity. Initial assessment on day 1 of life demonstrated midface hypoplasia, frontal bossing, large anterior and posterior fontanels, open metopic suture extending down to the nasal bridge, and wideopen sagittal suture. Full text get a printable copy pdf file of the complete article 991k, or click on a page image below to browse page by page. Rn0810 definizione sindrome autosomico recessiva caratterizzata da craniosinostosi ed aplasia del radio.
Phenotypic and cytogenetic overlap with roberts syndrome article pdf available in journal of medical genetics 276. We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent radii led to a diagnosis of baller gerold syndrome. We report a 16yearold growth deficient boy with craniosynostosis, radial hypoplasia and hypoplastic thumbs. Ballergerold syndrome is caused, in most cases, by a nonworking mutated gene called recql4. Poems syndrome also termed osteosclerotic myeloma, crowfukase syndrome, takatsuki disease, or pep syndrome is a rare paraneoplastic syndrome caused by a clone of aberrant plasma cells. The disorder is characterized by distinctive malformations of the skull and facial area and bones of the forearms and hands. People with ballergerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. Baller gerold syndrome bgs is a rare autosomal recessive disorder that is apparent at birth. Ballergerold syndrome nord national organization for. A case of severe craniosynostosisradial aplasia ballergerold syndrome is. Rapadilino syndrome is an autosomal recessive disorder characterized by.
A case of ballergerold syndrome following in vitro. Pdf roberts syndrome is an extremely rare genetic disease of autosomal recessive. Springer nature is making sarscov2 and covid19 research free. These findings are consistent with the autosomal recessively inherited balller gerold syndrome bgs which furthermore shows a great variability of concomitant occasional anomalies. Baller gerold syndrome bgs is a rare genetic syndrome that involves premature fusion of the skull bones and malformations of facial, forearm and hand bones. May 25, 2011 ballergerold syndrome is a rare condition characterized by the premature fusion of certain skull bones craniosynostosis and abnormalities of bones in the arms and hands, sometimes referred to as radial ray anomalies. Osteosarcoma in a 16yearold boy with ballergerold syndrom. Aug, 2007 ballergerold syndrome bgs is characterized by coronal craniosynostosis, manifest as abnormal shape of the skull brachycephaly with ocular proptosis and bulging forehead. Dec 06, 2012 sindrome di baller gerold codice esenzione. Ballergerold syndrome is a rare condition characterized by the premature. Additional congenital abnormalities included midface hypoplasia, atrial and ventricular septal defects, right hydronephrosis, partial sacral agenesis, and anterior ectopic anus. Mar 23, 2005 we report three patients with a history of maternal valproate use during pregnancy who presented with a combination of metopic suture synostosis and upper limb malformations, which could be diagnosed as ballergerold syndrome bgs. Phenotypic and cytogenetic overlap with roberts syndrome.
A case of severe craniosynostosisradial aplasia ballergerold syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Evidence of portal venous hypertension was present from 8 months and. Fetal exposure to sodium valproate associated with baller. Extensive agenesis of the frontal and parietal bones, resulting in a very large fontanelle, in addition to coronal bilateral. Many cases of ballergerold syndrome are caused by mutations in the recql4 gene. Protein interactions in human genetic diseases genome. Baller gerold syndrome jyotsna murthy, ramesh babu1, padmasani venkat ramanan2 department of plastic surgery, director of cleft and craniofacial center, 1consultant pediatric urologist, 2department of.
Ballergerold syndrome bgs is a rare genetic syndrome that involves premature fusion of the. Nord, a 501c3 organization, is the leading patient advocacy organization dedicated to improving the lives of individuals and families living with rare diseases. The patients underwent surgical treatment for the craniofacial deformity, during which standard frontocranial reconstruction was performed. Gerold syndrome associated with congenital hydrocephalus, american journal of medical genetics part a on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Craniosynostosis and radial aplasia are striking features, easy to diagnose. Pdf a case is reported where the major clinical features of craniostenosis and radial aplasia led to an initial. Carrier grade voice over ip by daniel collins pdf printer. A case of severe craniosynostosisradial aplasia baller gerold syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Ballergerold syndrome nord national organization for rare. The symptoms of baller gerold syndrome overlap with features of a few other genetics disorders. Ballergerold syndrome bgs is a rare genetic disorder that is apparent at birth congenital. Get a printable copy pdf file of the complete article 931k, or click on a page image below to browse page by page.
All of these conditions can be caused by mutations in the same gene. The syndrome of craniosynostosis and radial aplasia was first described by baller in 19501 and gerold in 1959. When there is a mutation in the gene, recql4 cannot carry. Baller gerold syndrome bgs is a rare autosomal recessive disorder that is. Download a ciascuno il suo pdf printer fast and secure with 8. The disease phenotypically overlaps with other disorders like rothmundthomson syndrome or saethrechotzen syndrome. Ballergerold syndrome bgs is a rare genetic disorder that is apparent at birth.
Enable javascript to view the expandcollapse boxes. Further evidence for association with prenatal exposure to valproate mary iype 1, py henry 2, cs aravind 2, k arun 3 1 department of paediatric neurology, government medical college, trivandrum, india 2 department of paediatric surgery, government medical college, trivandrum, india 3 department of orthopaedics, government medical college, trivandrum, india. Rothmundthomson syndrome genetics home reference nih. She was started on carbamazepine once again and was seizurefree since then. Ballergerold syndrome bgs is characterized by coronal craniosynostosis, manifest as abnormal shape of the skull brachycephaly with ocular proptosis and bulging forehead. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. Ballergerold syndrome is a rare condition characterized by the premature fusion of certain skull bones craniosynostosis and abnormalities of bones in the arms and hands. The ballergerold syndrome is a rare syndrome with very few cases published in literature. Gerold 1959 described a brother and sister, aged 16 years and 2 days, with tower skull, radial aplasia, and slight ulnar hypoplasia. The varied signs and symptoms of rothmundthomson syndrome overlap with features of other disorders, namely baller gerold syndrome and rapadilino syndrome.
Pmc free article boudreaux jm, colon ma, lorusso gd, parro ea, pelias mz. To carry out this role, recql4 is involved in many activities such as the repair of damaged dna or a cells response to stress. Baller 1950 described a female with oxycephaly and absent radius. Death occurred after two hours owing to a prolonged apnoeic.
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