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Four new patients with oculodentodigital dysplasia (ODD) have been examined. The salient and fairly constant features of ODD appear to be (1) unique facial appearance, (2) microcornea with other inconstant ocular findings, (3) syndactyly of the hands with additional characteristic phalangeal aberrations, (4) diffuse skeletal dysplasia, (5) enamel dysplasia,(More)
Arteriohepatic dysplasia (AHD) is a multisystem disorder which is characterized by liver, heart, eye, and bony abnormalities. A characteristic facies is also present. The etiology is not clear, and some authors have favored an in utero toxin or infection as the cause. Other reports have shown parent-to-child transmission suggesting an autosomal dominant(More)
7 affected and 4 normal individuals from three consecutive generations of a family with central areolar pigment epithelial dystrophy were examined. The pedigree was indicative of an autosomal dominant disorder with variable expression. The macular changes varied from numerous small drusen-like defects to large colobomatous appearing lesions while the visual(More)
Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habitus. Eleven cases were reported previously. We present 4 new patients and review one of the patients of the original report of Shprintzen and Goldberg [1982: J Craniofac Genet Dev Biol 2:65-74], 15 years later. The clinical and radiologic findings(More)
We report two brothers affected with what has been called either fragilitas oculi or the Ehlers-Danlos syndrome type VI. Previously reported cases of the Ehlers-Danlos syndrome type VI showed a deficiency of lysyl hydroxylase in cultured fibroblasts. Assays of cultured skin fibroblasts from these two boys yielded normal activity of this enzyme, suggesting(More)
We examined more than 300 children as outpatients with orally administered chloral hydrate sedation during the past three years; 175 of them have been examined in the last year. Without chloral hydrate sedation, examination under anesthesia would have been necessary or the results would have been less than satisfactory. Orally administered chloral hydrate(More)
Patients with congenital achromatopsia and congenital stationary night blindness have been known to show a transient pupillary constriction to darkness. We examined 50 normal subjects and 108 patients with retinal and optic nerve dysfunction to see if any had an initial pupillary constriction to darkness. We used a new infrared television apparatus. Four(More)
We studied two patients who had infantile malignant osteopetrosis, severe visual loss, and diminished electroretinogram amplitudes with visible macular chorioretinal degenerative changes. The findings support the hypothesis that a subgroup of patients with infantile malignant osteopetrosis exists in whom the visual loss is caused by a primary retinal(More)
Our review of previously published reports and familial cases revealed that corneal clouding in autosomal recessive congenital hereditary endothelial dystrophy was present at birth or within the neonatal period. Further, corneal changes with time were minimal, nystagmus was often present, and there were no other signs or symptoms. Patients with autosomal(More)