Holoprosencephaly
Mostrando 13-24 de 49 artigos, teses e dissertações.
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13. Microphthalmia with single central incisor and hypopituitarism.
A patient is described with a new association of microphthalmia, single central incisor, and hypopituitarism believed to represent a holoprosencephaly malformation. In view of the genetic ramifications of this malformation and its variable manifestations, we would like to alert the clinician to consider holoprosencephaly whenever midline malformations are de
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14. Holoprosencephaly: variation of expression in face and brain in three sibs.
A family is described containing three sibs with holoprosencephaly. They showed a striking diversity of both cerebral and facial abnormalities. Autosomal recessive inheritance seems most likely. Because of the great variety in expression of this disorder, it is of importance for genetic counselling to examine both sibs and parents.
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15. Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.
A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. R
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16. A case of suspected teratogenic holoprosencephaly.
A case of holoprosencephaly is reported in which the mother was prescribed high doses of oestroprogestins during the first 5 months of the pregnancy. Investigation of the family failed to reveal any sign of physical abnormality. A normal karyotype was detected in the proband. The authors suggest that this case may shed some light on the normal and abnormal w
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17. Holoprosencephaly: a family showing dominant inheritance and variable expression.
A family with probable dominant holoprosencephaly is presented with five affected subjects in two sibships, the offspring of healthy sisters who are presumed gene carriers. Of the affected children, three had cebocephaly and died shortly after birth. One had left choanal atresia, retinal coloboma, a single central maxillary incisor, microcephaly, short statu
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18. Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.
Cebocephaly and sirenomelia are uncommon birth defects. Their association is extremely rare; however, the presence of spina bifida with both conditions is not unexpected. We report on a female still-birth with cebocephaly, alobar holoprosencephaly, cleft palate, lumbar spina bifida, sirenomelia, a single umbilical artery, and a 46,XX karyotype, but without m
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19. Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.
We describe here a fetus with holoprosencephaly and signs of caudal deficiency sequence. Chromosome examination showed a de novo balanced reciprocal translocation (7;22) (q36;q11) with loss of the derivative chromosome 22 in 50% of the cells examined. The present report and available published data indicate that the terminal region of the long arm of chromos
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20. Holoprosencephaly and postaxial polydactyly: another observation.
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21. Holoprosencephaly. An Overview and Atlas of Cases
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22. Holoprosencephaly in deletions of proximal chromosome 14q.
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23. Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts
BMJ Group.
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24. Another holoprosencephaly locus at 7q21.2?