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Article
An aborted human fetus with truncus arteriosus communis—Possible teratogenic effect of Tedral
We recently performed a detailed anatomicopathologic examination on an aborted human embryo whose mother had taken four tablets of Tedral (one tablet of Tedral contains 130 mg theophylline, 25 mg ephedrine, 8 ...
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Article
Niemann-Pick Disease Type C
Two sisters with Niemann-Pick Disease Type C suffered from a progressive CNS degenerative disease which ended with death at 8 and 7 years. Light microscopic and histochemical studies revealed storage of lipid ...
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Article
A fetus with upper limb amelia, “caudal regression” and Dandy-Walker defect with an insulin-depedent diabetic mother
We describe the fetus delivered to an insulin-dependent diabetic woman who had had a previous large, stillborn, non-malformed male infant and a normal female infant. The present fetus had a most unusual combin...
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Article
Parachute mitral valve, coarctation of aorta, radius aplasia, and omphalocele in an infant with the trisomy 18 syndrome
A premature infant with trisomy 18 had cardiac defects including parachute mitral valve, coarctation of the aorta, and a subcristal ventricular septal defect.
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Article
Absence of spermatogonia in the Prader-Willi syndrome
Bilateral testicular biopsies in an 8 1/2 year old boy with the Prader-Willi syndrome showed total absence of spermatogonia. Similar findings in postpubertal cases (Wannarachue et al., 1975) suggest that testi...
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Article
Studies of malformation syndromes of man XL VII: Disappearance of spermatogonia in the fanconi anemia syndrome
A 15 year old boy with the Fanconi malformation-aplastic anemia syndrome developed erythroleukemia and died of multiple arterial thromboses and hemorrhage. He was one of 10 siblings including 3 affected sister...
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Chapter
Dysplasia, Malformations and Cancer, Especially with Respect to the Wiedemann-Beckwith Syndrome
Changes in the cellular composition of our organs and tissues are occurring continuously from conception till death. If these changes lead to the appearance of structurally and/or functionally abnormal cells, ...
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Article
Studies of malformation syndromes of man XXIX: The Wiedemann-Beckwith syndrome
This report describes 12 patients with the Wiedemann-Beckwith syndrome (WBS), including 6 familial cases from 2 families. The clinical manifestations do not allow for a differentiation between familial and spo...
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Article
Chondrodysplasia punctata — Rhizomelic form
Pathologic, ultrastructural and radiologic studies are described on 3 infants with the rhizomelic form of chondrodysplasia punctata. Radiologic criteria in the young infant include radiolucent coronal clefts d...
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Article
Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology
A study of 11 autopsied cases of the cerebro-hepato-renal syndrome of Zellweger (ZS) is reported. All cases had severe, peristent congenital hypotonia, hepatic lobular disarray, renal cortical cysts and pulmon...
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Article
Generalized gangliosidosis type II (Juvenile GM1 gangliosidosis)
Pathological, histochemical and ultrastructural studies on 3 siblings with GM1 gangliosidosis type II are reported. These studies support a biochemical defect with profound deficiency of β-galactosidase which res...
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Article
X-linked hydrocephalus. Further observations
The neuropathologic findings in a case of hydrocephalus of the X-linked recessive aqueductal stenosis type have been studied and compared with those previously reported from the same pedigree as well as with o...
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Article
Studies of malformation syndromes VID: The G syndrome. Further observations
An anatomic study of the organs of a 2-day-old female infant with severe repiratory manifestations of the G syndrome is presented. This case represents the third affected infant and first affected female of the J...
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Article
APPARENT CUTIS LAXA, MICROCEPHALY, CHD, POLYCYSTIC KIDNEYS, HYPOGENITALISM - A “NEW” SYNDROME
A complete dissection was done on a 7 day, 46 XY infant with mild IUGR and a syndrome of microcephaly, fleeting forehead, high bridge of nose, mongoloid slanting of palpebral fissures, micrognathia, congenital...
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Article
Generalized lymphangiectasis associated with chylothorax; a possible dysplasia of the lymphatic system
Two cases of chylothorax associated with generalized lymphangiomatosis (lymphangiectasis) are reported. The first case presented with splenomegaly, thrombocytopenia and afibrinogenemia and later with chylothor...
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Article
Minamata disease
A case of suspected mercury poisoning (Minamata disease) was studied. Microscopic and ultrastructural changes in the nervous system were compared with those of a confirmed case of mercury poisoning from Minama...
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Article
I-Cell disease, mucolipidosis II
Pathological, histochemical, ultrastructural and biochemical studies on 4 cases of I-cell disease are reported. These studies support a lysosomal defect with deficiency of many acid hydrolases and storage of b...
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Article
Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome)
From one personal patient and thirteen reported in the literature, arthro-dento-osteo dysplasia (ADOD) is defined as a heritable connective tissue disorder with the main clinical manifestations of laxity of jo...
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Article
The pathologic anatomy of the G syndrome
A detailed anatomic study of the organs of a stillborn male infant with the G syndrome was made.
