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Biomedical subjects

G F Judisch

Publications and source records attributed to G F Judisch.

At least 19 recordsLinked to original sources
PubMed1998

Shprintzen-Goldberg syndrome: a clinical analysis.

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 on our patients are compared with those of the previously reported patients and also with those of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 2: 220-224], who share many of the characteristics of Shprintzen-Goldberg syndrome. Some of the clinical data are helpful in determining if the patients of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 2: 220-224] have a separate syndrome or represent a variant of Shprintzen-Goldberg syndrome. However, radiologic investigations appear to be more specific, since an abnormality of the first and second cervical vertebrae, hydrocephalus, dilatation of the lateral ventricles, and a Chiari-I malformation of the brain were found only in the patients with Shprintzen-Goldberg syndrome. The apparently diagnostic findings of the 15 patients with this syndrome may be helpful in differentiating between Shprintzen-Goldberg syndrome and other syndromes with craniosynostosis and marfanoid habitus.

Abnormalities, Multiple↗
PubMed1991

Early-onset autosomal dominant retinitis pigmentosa with severe hyperopia.

We studied a four-generation family with early-onset autosomal dominant retinitis pigmentosa, severe hyperopia, and axial eye lengths of less than 20 mm. The affected members had decreased vision, night blindness, typical peripheral retinal pigmentary changes, and electroretinographic abnormalities characteristic of retinitis pigmentosa. This pedigree suggests there is another variant of retinitis pigmentosa associated with hyperopia besides Leber's congenital amaurosis and preserved para-arteriole retinal pigment epithelium.

Adolescent↗
PubMed1991

Heritable retinoblastoma and pinealoma.

A fourth case of bilateral retinoblastoma (RB) associated with pinealoma was identified among 56 patients with heritable RB. Using life-table analysis, the association was 5.6% 2 years after RB diagnosis. Retinoblastoma-pinealoma (RB-P) was uniformly fatal in this series and in 40 additional patients described in the literature. Ninety-five percent of patients with RB-P had bilateral RB, a positive family history of RB, or both. All patients with pinealoma presented with symptoms of increased intracranial pressure due to obstructive hydrocephalus. The advanced stage of the tumors at diagnosis may contribute to their uniform lethality. The incidence of a positive family history of RB in patients with pinealoma was higher than expected (62% of patients), which may be related to earlier surveillance and treatment of patients with positive family histories of RB.

Brain Neoplasms↗
PubMed1991

Congenital macronodular juvenile xanthogranuloma of the eyelid.

A large congenital eyelid mass prevented an infant from elevating his eyelid successfully. A small punch biopsy was initially interpreted as "consistent with a dermatofibrosarcoma protuberans." On the basis of this diagnosis, radical surgery was advised. Dermatofibrosarcoma protuberans, however, rarely affects children and seldom appears in the head and neck area. Because of the discrepancy between clinical and pathologic diagnoses, additional biopsies were performed, which disclosed the lesion to be a juvenile xanthogranuloma. The mass regressed after intralesional injections of corticosteroids. This is the first clinicopathologic description of congenital macronodular juvenile xanthogranuloma affecting the eyelids. The variability in the histologic composition of this large lesion may lead to a mistaken diagnosis of an aggressive condition that may provoke unnecessary radical surgery.

Adrenal Cortex Hormones↗
PubMed1990

Visual prognosis in macular retinoblastomas.

Since 1979, we have treated 11 patients who had macular retinoblastomas. Two patients eventually recovered 20/20 visual acuity despite the presence of subretinal fluid in the fovea at the time of diagnosis. The diagnosis was made at 11 and 14 months of age, and follow-up periods were ten and seven years, respectively. One case was sporadic and the other was hereditary. Both patients were treated with external radiation; one patient was also treated with chemotherapy. The lesions regressed markedly after treatment. These cases demonstrate that visual prognosis in macular retinoblastomas is not uniformly poor even when a foveal detachment is present. Visual acuity may be good in some cases, which supports the merits of medical treatment rather than enucleation in selected patients.

Eye Neoplasms↗
PubMed1990

Chorioretinal degeneration in infantile malignant osteopetrosis.

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 degeneration that may be associated with generalized central nervous system neuronal degeneration.

Choroid Diseases↗
PubMed1988

[Severed musculus rectus internus caused by a dog bite].

A four-year-old girl sustained facial injuries from multiple dog bites. Although the globe exhibited slight adduction saccades the medial rectus muscle appeared to be intact when examined by computer tomography. However, on surgical exploration of the orbit the muscle parenchyma was found to have been completely severed.

Animals↗
PubMed1985

Pupillary constriction to darkness.

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 patients with congenital stationary night blindness, four with achromatopsia, two with bilateral optic neuritis, and one with dominant optic atrophy showed the phenomenon. In the patients who showed this unusual pupillary response to darkness it was the first observable event every time the lights were turned off. The constriction could usually be seen with a handlight, and it was similar in latency to the normal pupillary dilatation to darkness. Pupillary constriction to darkness is a clinically valuable sign that can be used in the detection of congenital retinal disease in children with poor vision.

Adolescent↗
PubMed1984

Orbital hypotelorism. An isolated autosomal dominant trait.

Four patients from three consecutive generations of a family with ocular hypotelorism are described. Radiographs document a subnormal distance between the medial orbital walls. To our knowledge, this is the first report of heritable isolated orbital hypotelorism. The pedigree is consistent with an autosomal dominant disorder.

Adult↗
PubMed1984

Central areolar pigment epithelial dystrophy.

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 acuities ranged from 6/4 to 3/120. Some of those with excellent visual acuity had small central scotomata. Urinary metabolic screening, plasma amino acid levels and 24-hour urinary amino acid levels were normal.

Electrooculography↗
PubMed1984

Abetalipoproteinemia. Report of an unusual patient.

Abetalipoproteinemia (Bassen-Kornzweig syndrome, acanthocytosis) was diagnosed at age 13 months in a black male. At age 13 months, the electroretinogram was nonrecordable and a pigmentary retinopathy was obvious with ophthalmoscopy. Following dietary modification and vitamin supplementation, the scotopic electroretinogram improved to about 30% of normal.

Abetalipoproteinemia↗
PubMed1981

Chorioretinopathy and pituitary dysfunction. The CPD syndrome.

Four reports of a rare syndrome characterized by severe, early-onset chorioretinopathy, trichosis, and evidence of pituitary dysfunction are reviewed. Recently obtained follow-up information about these four patients is presented. A new example of this disease, the fifth case to be reported, to our knowledge, is described.

Adolescent↗
PubMed1981

Ocular findings in arteriohepatic dysplasia (Alagille's syndrome).

The ocular findings in a father and two offspring with arteriohepatic dysplasia are reported in this paper. All three people had bilateral posterior embryotoxon, Axenfeld's anomaly and a pigmentary retinopathy. Other ocular findings were exotropia, an ectopic pupil, band keratopathy, choroidal folds, anomalous optic discs and infantile myopia. Persons with arteriohepatic dysplasia typically present with prolonged neonatal jaundice. Cognizance of the associated eye findings helps distinguish this syndrome from other types of familial intrahepatic cholestasis.

Adult↗