ISSN:
1433-0350
Keywords:
Holoprosencephaly
;
Cebocephaly
;
7q deletion
;
Aberrant adenohypophysis
;
Multiple congenital anomalies
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract An autopsy case of cebocephaly-holoprosencephaly at 27 weeks' gestation is reported. Chromosome analysis revealed a 46, XX,-7, +der(7), t(7; 13) (q32; q34) pat karyotype. Pathological examination disclosed a hypoplastic aberrant adenohypohysis, in which immunohistochemical localization of four anterior pituitary hormones (ACTH, GH, PRL, TSH-β) was demonstrated. Malformation of the pituitary gland in holoprosencephaly can include ectopic adenohypophysis as well as pituitary dysgenesis, so a careful search for adenohypophysis should be made in future cases for a better understanding of endocrine dysgenesis associated with holoprosencephaly.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00274062
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