Recurrence of Pallister-Hall syndrome in two sibs.
نویسندگان
چکیده
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.
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...
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We anesthetized a full-term male infant with a history of supraventricular tachydysrhythmias on three occasions: days-of-life 6, 30, and 131. The patient initially carried a diagnosis of VACTERL syndrome but because of intraoperative findings and subsequent genetic study, was diagnosed with Pallister-Hall syndrome. Cardiac arrhythmias have not previously been reported with this syndrome. We fur...
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We report two male sibs and two female sibs from separate families, both with normal parents, who had a lethal condition with features of the Yunis-Varon syndrome and radiological signs of severe osteodysplasty. Autosomal recessive inheritance is likely in both families. The additional features described represent further delineation of the phenotype of the Yunis-Varon syndrome.
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عنوان ژورنال:
- Journal of medical genetics
دوره 31 2 شماره
صفحات -
تاریخ انتشار 1994