Yunis-Varon syndrome with severe osteodysplasty.
نویسندگان
چکیده
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.
منابع مشابه
Yunis-Varon syndrome.
Yunis-Varon syndrome is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones along with complete or partial absence of the clavicles (cleidocranial dysplasia), characteristic facial features, and/or abnormalities of the fingers and/or toes.
متن کاملFurther delineation of the Yunis-Varon syndrome.
A boy with intrauterine growth retardation, microcephaly, dysostosis of the skull, hypoplastic facial bones, labiogingival retraction, agenesis of the clavicles, distal aphalangia, and severely hypoplastic thumbs and halluces is described. The features are consistent with the Yunis-Varon syndrome. Review of published reports shows this to be a generalised disorder with variable manifestations i...
متن کاملLife-threatening hyponatremia in marathon runners: The Varon-Ayus syndrome revisited
Life-threatening hyponatremia can occur when sodium concentration falls to 125 mmol/L or less. Symptoms usually do not depend on the absolute sodium concentration but on the rate of fall. Estimates of mortality in acute hyponatremia are as high as 50%. Marathon runners are at particular risk of developing a syndrome which consists of severe hyponatremia, pulmonary edema and cerebral edema as or...
متن کاملMelnick- needles osteodysplasty presenting with quadriparesis.
Melnick-Needles syndrome or osteodysplasty, a monogenic heritable bone dysplasia, is characterized by a typical facies and characteristic radiological findings. Less than 70 well-documented cases have been reported in literature; most of them were sporadic. We report the first case from Eastern India in an adolescent male, who had cranio-vertebral junction anomalies and presented with spastic q...
متن کاملA comparison of incest offenders based on victim age.
The purpose of the present study was to compare incest offenders (IOs) whose victims include infants or toddlers to IOs with adolescent victims on several variables commonly examined in the sexual offender literature. Participants were 48 men whose youngest victim was less than 6 years of age (younger-victim incest offenders; YVs); and 71 men whose youngest victim was 12 to 16 years of age (old...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 27 2 شماره
صفحات -
تاریخ انتشار 1990