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At least 1,279 records · Page 71Linked to original sources
PubMed1981

Central serous choroidopathy in the Hallermann-Streiff Syndrome.

Central serous choroidopathy was observed in a young patient with the Hallermann-Streiff syndrome. Typical features of this syndrome include microphthalmos, proportionate dwarfism, dyscephaly with birdlike facies, dental abnormalities, and hypotrichosis. Exceptional aspects of this case include age of onset (11 years), high hyperopic refractive error (+ 13.00 sphere), and multiple recurrences caused by six separate documented leaks from the choroid. Fundus changes previously reported in the Hallermann-Streiff syndrome, interpreted as chorioretinal pigmentary changes, may have been secondary to previous undiagnosed central serous choroidopathy. Periodic ophthalmoscopy should be performed and may detect unrecognized episodes of central serous choroidopathy for which photocoagulation would be beneficial.

Adolescent↗
PubMed1981

Ear anomalies in an infant with Potter's syndrome.

Microdissection and scanning electron microscopy were used to study temporal bone specimens from a newborn infant with Potter's syndrome. The 34-year-old mother of the infant had juvenile-onset rheumatoid arthritis and she took prostaglandin inhibitors (aspirin, indomethacin, and Clinoril) during pregnancy. Autopsy findings included bilateral renal dysgenesis, pulmonary hypoplasia, abnormal facies with low-set ears, and bilateral cataracts. The infant's left external ear canal was stenotic and the left tympanic anulus was narrowed. Otherwise, both middle ears, as well as the sensory structures of the cochleae and semicircular canals, were normal. The saccular and utricular muculae on the right were entirely devoid of otoconia, although they were covered by gelatinous otoconial membranes which appeared normal. On the left, the maculae were covered by thin layers of flat, lenticular crystals 2 to 10 mu in diameter. X-ray powder diffraction analysis showed these aberrant otoconia to be composed of calcium carbonate in the form of vaterite. No abnormalities of the neuroepithelia or macular nerve supply were found in either ear.

Cataract↗
PubMed1981

Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia.

We describe a girl born to a mother who took birth control pills and antihistamines during the first trimester of pregnancy. Congenital abnormalities included plagiocephaly, abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, left inguinal hernia, patient ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery. The karyotype obtained from peripheral lymphocytes and from fibroblasts from the left side of the body was 46XX whereas fibroblasts from the right side revealed 46XX/47XX+7 mosaicism.

Child↗
PubMed1980

[Osteodysplasty (Melnick-Needles syndrome) (author's transl)].

Authors report a new case of osteodisplasty (Melnick-Needles syndrome) and describe radiological findings that are typical of this entity: bony sclerosis of base structures, abnormal dental alignment, sclerosis and irregularity of clavicles and ribs, described as "band-like" deformity, cortical irregularity of tubular bones with metaphyseal flaring and diaphyseal bowing. Flat bones are broadened, particularly iliac crest and vertebral bones. Facial features described by the majority of authors in this entity are present in our patient in an incomplete form: craniofacial disproportion, micrognatia, depressed temples, exophthalmus (not in our patient) and broadened forehead. The paper is intended to gather clinical data of already reported cases in order to facilitate clinical research in the future from the immunological, genetical and biochemical points of view. Our patient has the same clinical history as the patient studied in the original paper. Dr. Melnick was kind enough to send us clinical data and autopsy findings.

Bone and Bones↗