منابع مشابه
Familial Pallister-Hall syndrome.
In their report of sibs with the Pallister-Hall syndrome, Thomas et al' make the points that choanal atresia may be a feature of this condition and that it may be caused by a dominant gene. We have recently encountered an infant in whom the findings lend support to both of these suggestions. Our patient, a female, was the first child born to a healthy 31 year old female and her healthy and unre...
متن کاملFamilial Pallister-Hall syndrome.
In their report of sibs with the Pallister-Hall syndrome, Thomas et al' make the points that choanal atresia may be a feature of this condition and that it may be caused by a dominant gene. We have recently encountered an infant in whom the findings lend support to both of these suggestions. Our patient, a female, was the first child born to a healthy 31 year old female and her healthy and unre...
متن کاملPallister-Hall syndrome: clinical and MR features.
A 4-month-old boy with polydactyly and bifid epiglottis was found to have a large sellar and suprasellar mass. When the diagnosis of Pallister-Hall syndrome was made, conservative management was elected. When the patient was 2 years old, the tumor had grown proportionally with the patient, and he was developing appropriately. Although rare, this entity is important to recognize not only for cli...
متن کاملPallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?
The Pallister-Hall syndrome is characterised by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies including a diencephalic hamartoblastoma. The hallmarks of the McKusick-Kaufmann syndrome are hydrocolpos owing to vaginal atresia, postaxial polydactyly, imperforate anus, and congenital heart defects. We report a patient with the unique features of hydrocolpo...
متن کاملRecurrence of Pallister-Hall syndrome in two sibs.
We report the first definite sib recurrence of Pallister-Hall syndrome in a family without a cytogenetically visible chromosome abnormality. The father of these two sibs was born with nearly identical digital abnormalities and could represent either mild expression or gonosomal mosaicism for a dominant gene.
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2011
ISSN: 1768-3262
DOI: 10.4267/2042/38422