The trapped penis is a condition in which scarring at the distal prepuce forms a contracture that binds down the shaft of the penis.
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Circumcision, Male↗
Biomedical subjects
R J Hopkin
Publications and source records attributed to R J Hopkin.
Prader Willi and Angelman syndromes: exemplars of genomic imprinting.
The molecular phenomenon genomic imprinting provides an explanation for why two clinically distinct syndromes share genetic etiologies. Increased understanding of genomic imprinting is affecting diagnostics. Use of improved diagnostic tests can enable early, syndrome-specific, and anticipatory interventions and consequently, improved quality of life; however, these tests are of little use unless clinicians are able to identify at-risk patients. Nurses knowledgeable about Prader Willi and Angelman syndromes and their associated genetic mechanisms can play a significant role in early identification, referral, and intervention of patients with these conditions.
Angelman Syndrome↗
Progressive laryngotracheal stenosis with short stature and arthropathy.
Laryngotracheal stenosis is rare in adults, especially in the absence of a malignancy. It is most commonly caused by fibrosis following endotracheal intubation or tracheal trauma. Other conditions causing progressive airway narrowing include the mucopolysaccharidoses and autoimmune disorders. With the exception of storage diseases, there are no well-defined genetic disorders with progressive airway narrowing as a common complication. We have evaluated three unrelated individuals with this potentially life-threatening finding, all of whom have a previously unrecognized condition. Each patient had short stature and joint stiffness with no evidence for infectious, inflammatory, or metabolic diseases as a cause of their condition. None of our patients had clinical findings indicative of known skeletal dysplasias or storage diseases. They had minor facial anomalies which included deeply set eyes, bushy eyebrows, and flat midface. Given the unique findings of our patients including adult onset critical tracheal stenosis, short stature, progressive joint limitation, and distinct facial anomalies, we conclude that they have a previously undescribed condition.
Abnormalities, Multiple↗
New insights into the phenotypes of 6q deletions.
Deletions of chromosome 6q are rare. We report 3 new patients with 6q deletions. Case 1 is a male with an interstitial deletion [del(6)(q13q14.2)], hypotonia, speech delays, and minor anomalies. Case 2 is a male with an interstitial deletion [del(6)(q16.2q22.32)] and malformations, including truncus arteriosus and bilateral oligodactyly. Case 3 is a male with a terminal deletion [del(6)(q25.2)] with retinal pits, hydrocephalus, atrioventricular canal, and hydronephrosis. The findings in our patients and those from 57 previously reported cases demonstrated 3 phenotypic groups associated with 6q deletions. Group A [del(6)(q11-q16)] had a high incidence of hernias, upslanting palpebral fissures, and thin lips with lower frequency of microcephaly, micrognathia, and heart malformations. Group B [del(6)(q15-q25)] was associated with increased intrauterine growth retardation, abnormal respiration, hypertelorism, and upper limb malformations. Group C [del(6)(q25-qter)] was associated with retinal abnormalities, cleft palate, and genital hypoplasia. The only universal finding among all patients with 6q deletions was mental retardation. Other findings common to all 3 groups included ear anomalies (90%), hypotonia (82%), and postnatal growth retardation (68%).
Adult↗
A submicroscopic deletion in Xq26 associated with familial situs ambiguus.
Abnormal left-right-axis formation results in heterotaxy, a multiple-malformation syndrome often characterized by severe heart defects, splenic abnormalities, and gastrointestinal malrotation. Previously we had studied a large family in which a gene for heterotaxy, HTX1, was mapped to a 19-cM region in Xq24-q27.1. Further analysis of this family has revealed two recombinations that place HTX1 between DXS300 and DXS1062, an interval spanning approximately 1.3 Mb in Xq26.2. In order to provide independent confirmation of HTX1 localization, a PCR-based search for submicroscopic deletions in this region was performed in unrelated males with sporadic or familial heterotaxy. A cluster of sequence-tagged sites failed to amplify in an individual who also had a deceased, affected brother. FISH identified the mother as a carrier of the deletion, which arose as a new mutation from the maternal grandfather. The deletion interval spans 600-1,100 kb and lies wholly within the 1.3-Mb region identified by recombination. Discovery of this deletion supports localization of HTX1 to Xq26.2 and reveals the first molecular-genetic abnormality associated with human left-right-asymmetry defects.
Abnormalities, Multiple↗
Primary amoebic meningoencephalitis with Naegleria fowleri: clinical review.
Two children with primary amoebic meningoencephalitis secondary to Naegleria fowleri are reported. Both children died, and the causative agent was identified at autopsy. Presentation and outcome conformed to the usual course of primary amoebic meningoencephalitis and reaffirm the gravity and rapid progression of this infection. The epidemiology, microbiology, diagnostic considerations, and treatment are discussed. Primary amoebic meningoencephalitis should be considered in the differential diagnosis of children with meningitis or encephalitis.
Amebiasis↗
Otitis externa posing as mastoiditis.
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Child↗
The inconspicuous penis.
OBJECTIVE: To describe the etiology and management of the group of abnormalities referred to as the inconspicuous penis. DESIGN: Analysis of 19 cases seen over a period of 2 years by chart review. SETTING: Children's hospital in a major metropolitan area. PATIENTS: Nineteen boys referred to two pediatric urologists over a period of 2 years with penises that appeared abnormally small, but on palpation and measurement, were found to have a normal shaft with a normal stretched length. Diagnoses included were buried penis, webbed penis, and trapped penis. Patients ages ranged from 1 week to 13 years. FINDINGS: There were eight patients (42%) with trapped penis, and all were complications of circumcision (age 1 week to 7 months). Of nine (47%) patients with buried penis, two had been circumcised prior to diagnosis. One (5%) patient had webbed penis and one (5%) had combined buried and webbed penis. INTERVENTION: Six trapped penises were surgically repaired, and two resolved spontaneously. Five patients with buried penis had surgical repair, and two are being followed up for probable repair at age 9 to 12 months. Two were not repaired because of medical conditions or parental concerns. The webbed penis was surgically repaired as was the combined buried and webbed penis. The repair were all successful and had no complications. CONCLUSIONS: Inconspicuous penis encompasses a group of conditions in which the penis appears small but the shaft can be normal or abnormal in size. Circumcision is contraindicated in these patients until they have been evaluated by a urologist. Further study is needed to determine the natural history of these disorders and to better define which patients will benefit from surgical intervention and at what age.
Adolescent↗