Congenital heart malformation in Yunis-Varon syndrome.
نویسندگان
چکیده
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 کاملYunis-Varon syndrome with severe osteodysplasty.
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.
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 کاملSome possible causes of congenital heart malformation.
Certain conditions found in human congenital heart disease are probably genetic in origin (Cockayne, 1938; Polani and Campbell, 1955), but sometimes they may be correlated with an environmental factor, namely the infection of the mother with rubella during early pregnancy. Thus there appears to be no single cause of congenital heart abnormality; sometimes genetic causes and sometimes environmen...
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Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae. It results from a disturbance in the fetal mesoderm in early pregnancy (< 4 week of gestation). Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative fac...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1993
ISSN: 1468-6244
DOI: 10.1136/jmg.30.9.788