Biomedical subjects

R Pashby

Publications and source records attributed to R Pashby.

3 recordsLinked to original sources

PubMed1998

Intervention within days for some orbital floor fractures: the white-eyed blowout.

Management of blowout fractures involving the orbital floor has been controversial over the past several decades. One school of thought recommends conservative treatment for 4 to 6 months while another recommends a 'wait and watch' period of 2 weeks before intervention. The authors have encountered a group of patients with such fractures, commonly children (less than 16 years of age), who have sustained a blow to the periocular area, yet have marked motility restrictions in up and down gaze, minimal soft tissue signs of trauma, lack of enophthalmos, and very minimal evidence of floor disruption on radiologic exam. A 2-week waiting period has been found to be of little benefit in these persons and possibly harmful to their motility. We advocate surgery within the first few days after injury as it may help to avoid permanent motility restriction. The authors have termed this entity 'the white-eyed blowout fracture.'

Adolescent↗

PubMedDate not supplied

Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant condition mapped to chromosome 3q23. There are several reports of chromosomal abnormalities involving this region with a resultant phenotype that includes BPES. METHOD: We reassessed two unrelated boys ages 3 and 5 with BPES and associated nonocular abnormalities. Karyotype, which had been previously reported as normal, was repeated using high-resolution banding techniques, to look specifically at 3q23. Clinical findings were tabulated and compared with previously reported cases. RESULTS: Both patients proved to have interstitial deletions of chromosome 3, the first involving bands q22.2q25.1 and the second q22.2q24. The first patient exhibited prenatal and postnatal growth retardation, with global developmental delay, while the second patient had normal growth and development except for speech delay. Both had dysmorphic facies with BPES, flat philtrum, a thin upper lip, and small chin. In addition, the first boy had an inguinal hernia and hypospadius; the second boy had abnormal auricles and metatarsus adductus. The eight cases of interstitial deletions of 3q2 and six rearrangements involving this region have a remarkably similar phenotype. CONCLUSIONS: Deletion of 3q23 is a recognizable contiguous gene syndrome. Microdeletions of 3q23 should be ruled out in any sporadic case of BPES especially if there are associated nonocular abnormalities.

Blepharophimosis↗

PubMedDate not supplied

Microblepharon: a case report.

Microblepharon is a rare congenital anomaly manifested by a vertical shortening of the eyelids. We describe the clinical presentation and surgical outcome of a patient with trisomy 21 and microblepharon. Microblepharon occurs in varying degrees and must be distinguished from ablepharon and cryptophthalmos. A variety of surgical options are available depending upon the degree of lid involvement.

Diagnosis, Differential↗