Radial, renal and craniofacial anomalies: Baller-Gerold syndrome
نویسندگان
چکیده
منابع مشابه
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome
The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the d...
متن کاملThe Baller-Gerold syndrome.
A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death occurred after two hours owing to a prolonged apnoeic spell. Extensive agenesis of the frontal and parietal bones, resulting in a very large fontanelle, in addition to coronal bilateral craniosyno...
متن کاملBaller-Gerold Syndrome a Rare Cause of Heart-Hand Syndrome
Heart hand syndromes are characterized by radial abnormalities and associated defects in the heart. We here describe an extremely rare heart hand syndrome known as Baller-Gerold syndrome.
متن کاملBaller-Gerold syndrome associated with congenital portal venous malformation.
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. Additional congenital abnormalities included midface hypoplasia, atrial and ventricular septal defects, right hydronephrosis, partial sacral agenesis, and anterior ectopic anus. Evidence of portal venous hypertension was present from 8 months and ...
متن کاملThe Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.
A case is reported where the major clinical features of craniostenosis and radial aplasia led to an initial diagnosis of Baller-Gerold syndrome. Mild fibular hypoplasia on skeletal survey led to review of the diagnosis and the similarity of the facial phenotype to that of Roberts syndrome was noted. Chromosome analysis showed the premature centromere separation characteristic of this condition....
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Indian Journal of Plastic Surgery
سال: 2008
ISSN: 0970-0358,1998-376X
DOI: 10.1055/s-0039-1699234