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Niemann-Pick Disease Type C
TLDR
Light microscopic and histochemical studies revealed storage of lipid in the viscera and in the central nervous system (predominantly ganglioside) and data are compatible with autosomal recessive inheritance of a sphingomyelin lipidosis associated with deficiency of isoelectric forms of sphingomelinase.
The clinical spectrum of congenital contractural arachnodactyly
TLDR
The pattern of abnormalities suggests that the underlying connective tissue abnormality in CCA is “spotty” and not generalized as in such disorders as the Marfan syndrome, Stickler syndrome and arthro-dento-osteo dysplasia.
THE CLINICAL SPECTRUM OF CONGENITAL CONTRACTURAL ARACHNODACTYLY: A CASE WITH CONGENITAL HEART DISEASE
TLDR
The cardiac involvement in the patient with CCA suggests that the clinical spectrum in CCA may be broader than previously assumed, and the valvar incompetence appears to result from stretching of connective tissue including dilatation of the mitral ring and elongations of the chordae tendineae.
Familial bilateral renal agenesis and hereditary renal adysplasia
TLDR
In these two families, and in two others from the literature, autosomal dominant inheritance seems responsible for the presence of unilateral aplasia and bilateral adysplasia in different family members; this newly recognized genetic trait, is being designated “hereditary renal adys plasia (HRA)”.
Basal ganglia calcification in Kearns-Sayre syndrome.
TLDR
A patient with KSS whose skeletal muscle contained abnormal mitochondria was examined, and a computerized tomographic scan of the head showed cerebellar and brain stem atrophy, as well as calcification in the region of the basal ganglia.
Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome
We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Möbius syndrome, but also those described, among others, under names such
Studies of malformation syndromes of man XXIX: The Wiedemann-Beckwith syndrome
TLDR
Familial occurrence suggests that some cases of the WBS may be due to delayed mutation, and carriers of the premutated allele appear to belong to two classes: those with a high risk of producing affected offspring and those who transmit the premUTated allele but have no affected offspring.
Neonatal intracranial choriocarcinoma.
TLDR
A 1-month-old infant died from extensive intracerebral hemorrhage due to a metastatic choriocarcinoma to the brain that presumably originated in the placenta, and a computed tomographic scan revealed a large vascular mass in the left parieto-occipital region and a small lesion in theleft frontal lobe.
Postoperative hepatic dysfunction.
Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family.
The brain findings at autopsy of an 18-year-old male with FG syndrome were megalencephaly, midline fusion of mammillary bodies, heterotopia of neuroglial tissue in the 7th and 8th nerves, and
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