10 rezultātiem
To investigate the measurement of anterior segment parameters using Sirius Scheimpflug-Placido topographer, Lenstar optical low coherence reflectometry (OLCR), and noncontact specular microscopy (SM) in morbidly obese and nonobese subjects.
Twenty-eight morbidly obese subjects (BMI ≥ 40; Group 1)
We report two daughters of a Thai family affected with mental retardation, delayed speech, obesity, craniofacial manifestations, and ocular anomalies. Craniofacial manifestations included macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. Ocular anomalies consisted of
Microcephalic osteodysplastic primordial dwarfism syndrome II (MOPDII) is microcephalic primordial dwarfism and is a very rare form of disproportionate short stature. This disorder shares common features with other forms of microcephalic primordial dwarfism, including severe prenatal and postnatal
Because of 10.94% frequency in obese recruits in Rijeka in 2005 occupational medicine decided to study causality of that and other most frequent diagnoses: pedes plani, myopia and astigmatism, kyphosis and scoliosis, asthma, hypertension and branch block. Double monitoring of 1,311 recruits was
We examined 18 cases of floppy eyelid syndrome, first reported in the Orient, in patients ranging in age from 11 to 55 years (mean 24 years); 16 were men and two were women. In contrast to previous reports in which almost all patients were obese men, only three of our patients were mildly obese. The
Prader-Willi syndrome is characterized by hypotonia and feeding difficulties in the neonatal period, with the childhood development of hyperphagia leading to obesity, developmental delay, hypogonadism, short stature and small hands and feet. Correct diagnosis of Prader-Willi syndrome is important
Purpose: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease.
Purpose: To present the case of two siblings with a genetic diagnosis of Bardet Biedl syndrome (BBS) type 1, yet different clinical profiles and disease manifestations.
Observations:
Forty-six patients with Prader-Willi syndrome were examined to determine the incidence and character of ocular abnormalities. All patients met clinical criteria for this syndrome including infantile hypotonia, hypogonadism, truncal obesity, intellectual impairment, dysmorphic facies, and short
OBJECTIVE
To characterize the phenotype of Bardet-Biedl syndrome (BBS) patients homozygous for the BBS1 M390R mutation.
METHODS
Three patients [PT1, F, 27 years old (yo) at last examination, 14-year follow-up (F/U) PT2, F, 15-yo PT3, M, 15-yo, both 1-year F/U] underwent eye exams, Goldmann visual