Open AccessARHINENCEPHALY WITH NORMAL KARYOTYPE ASSOCIATED WITH HYPOCALCEMIC CONVULSION
Author(s) -
Miyasaki Kichihei,
Mimura Keiko,
Inagaki Yuko,
Nakamura Akira,
Negishi Hirokuni,
Akiyama Hiroshi,
Okamoto Michihiko,
Sugioka Kozo,
Nakamura Kazushige
Publication year - 1979
Publication title -
acta patholigica japonica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
ISSN - 0001-6632
DOI - 10.1111/j.1440-1827.1979.tb00959.x
Subject(s) - medicine , anatomy , autopsy , penis , hypoplasia , pathology
The patient was a male infant who was born at the 39th week of gestation. He had cleft lips and palate, low set ears, myogenic torticollis in the left neck, clubhand in both 5th fingers, dysplasia of the penis, and cryptorchism. Although he had convulsion due to hypocalcemia 9 days after birth, this improved 25 days after birth by the administration of a calcium agent. Five months after birth, cleft lip plastics were performed. Six months after birth, an apnea attack occurred and cyanosis was observed during examination of the optic fundi. Two days later, he died. Chromosomal analyses has revealed a normal chromosome karyotype 17 days and again 4th months after birth. Autopsy findings showed the brain to be normally separated into two cerebral hemispheres but lacking in olfactory bulbi and tracts. Also observed were an atrio‐septal cardiac defect, Meckel's diverticulum in the lower small intestine, and enlarged renal pelves. Retinal and choroid defects were seen at the sites where giant papillae were found in examination of the optic fundi.