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Changes in registered congenital anomalies in the republic of belarus after the chernobyl accident
A descriptive analysis of birth defects and malformations was performed to assess whether the rates of these defects correlate with the geographic areas of Belarus that received different levels of… Expand
Expression of the sonic hedgehog gene in human embryos with neural tube defects.
BACKGROUND To estimate the rate of malformations observed during early human development, a series of 38,913 first-trimester abortions were studied. Neural tube defects (NTD) were found in 57 cases.… Expand
The Neu‐Laxova syndrome—a distinct entity
We report a stillborn girl with a complex syndrome of microcephaly, lissencephaly, severe subcutaneous edema, atrophic muscles, camptodactyly, syndactyly of toes and fingers, hypoplastic genitalia,… Expand
Elaboration of the phenotypic changes of the upper limbs in the Neu-Laxova syndrome.
We present two new cases and data from a detailed study of the upper limbs (structural changes, the state of peripheral nerves, arteries, muscles and bones) of three stillborn infants with the… Expand
Cerebral abnormalities in the Neu-Laxova syndrome.
Cerebral abnormalities are considered an obligatory manifestation of the Neu-Laxova syndrome and include lissencephaly, severe microcephaly, aplasia of the corpus callosum, hypoplasia of the… Expand
SYNDROME OF MULTIPLE CONGENITAL MALFORMATIONS INCLUDING PHOCOMELIA, THROMBOCYTOPENIA, ENCEPHALOCELE, AND UROGENITAL ABNORMALITIES
The cerebro‐reno‐digital syndromes: a new community
Two “new” syndromes of multiple congenital malformations with autosomal‐recessive inheritance are presented. One syndrome, found in 2 sibs of nonconsanguineous parents, included microcephaly,… Expand
Partial trisomy 10p in two generations
- I. Lurie, G. Lazjuk, D. Gurevich, G. I. Kravtzova, M. K. Nedzved, I. Shved
- Biology, Medicine
- Human Genetics
- 17 March 1978
SummaryTwo cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher… Expand
Campomelic syndrome: concepts of the bowing and shortening in the lower limbs.
A comprehensive study (bone roentgenography, arteriography, gross dissection, microscopy of the long bones, and biochemical study of proteoglycan-aggregates in the hyaline cartilage) of the lower… Expand
Genetics of the +p9 syndrome
SummaryAn analysis of data about the+p9 syndrome revealed that this clinical entity may occur in some different genetic forms. The recurrence risk in cases with familial translocations is due to the… Expand