Asymptomatic laryngeal malformations are common in patients with Pallister‐Hall syndrome

Pallister‐Hall syndrome (PHS) comprises hypothalamic hamartoma, polydactyly, pituitary dysfunction, laryngotracheal cleft, imperforate anus, and other anomalies. Some patients with PHS have a bifid epiglottis, a rare malformation. Greig cephalopolysyndactyly syndrome (GCPS) comprises polydactyly with craniofacial malformations without the PHS malformations. Both disorders are caused by mutations in the GLI3 gene. Laryngoscopy on 26 subjects with PHS showed that 15 had a bifid or cleft epiglottis (58%) and none of 14 subjects with GCPS had a cleft epiglottis. The malformed epiglottis was asymptomatic in all of the prospectively evaluated subjects. One additional PHS subject was found to have bifid epiglottis and a posterior laryngeal cleft on autopsy. We conclude that bifid epiglottis is common in PHS but not GCPS. Posterior laryngeal clefts are an uncommon manifestation of PHS and are identified only in severely affected patients. The diagnosis of a bifid epiglottis should prompt a thorough search for other sometimes asymptomatic anomalies of PHS to provide better medical care and recurrence risk assessment for affected individuals and families. Am. J. Med. Genet. 94:64–67, 2000. Published 2000 Wiley‐Liss, Inc.     

100例女性下尿路感染的外科治疗

对662例女性下尿路感染患者作了发病因素的探索。发现尿道外口缩窄,处女膜伞,膀胱颈梗阻等是女性下尿路感染的常见发病诱因。对这些梗阻因素分别采用了1,105次尿道扩张术和89次尿道外口整形术等外科疗法,其中随访100例,疗效达92％。     

Quality of life measures for fecal incontinence and their use in children

BACKGROUND: Fecal incontinence is a common problem within society from childhood through to the elderly. Its clinical assessment has focussed on severity and frequency of soiling episodes but it is increasingly recognized to have an impact on physical, psychological and social well-being (quality of life [QOL]). This is likely to be particularly important in childhood. The aim of the present study was to critically evaluate the development and application of disease-specific QOL measures, focusing particularly on their use in children. METHODS: Generally recognized disease-specific QOL measures for fecal incontinence were identified and their generation and validation were critically evaluated. RESULTS: Six instruments were identified: Ditesheim and Templeton QOL Scoring System, Manchester Health Questionnaire, Hirschsprung's Disease/Anorectal Malformation Quality of Life Questionnaire (HAQL), Gastrointestinal Quality of Life Index (GIQLI), Fecal Incontinence TyPE Specification, and the Fecal Incontinence Quality of Life Scale (FIQL). Although the FIQL appeared to be the better tool for adults with fecal incontinence because it was brief and had the best validity and reliability, it needed further modification to become appropriate for use in children. In particular, items relating to sexual activity were inappropriate. CONCLUSION: Neither the FIQL nor other disease-specific instruments met basic psychometric standards for use in children with fecal incontinence. Substantial revision of currently available instruments will be required to meet the needs of this population.     

Baller-Gerold syndrome Craniosynostosis-radial aplasia syndrome

A new case of the Baller-Gerold syndrome is described in a 6¹/₂-year-old, black male who presented at birth with bilateral synostoses of the coronal and lambdoidal sutures, bilateral radial aplasia, vertebral anomalies and genito-urinary malformations. The parents and siblings were unaffected, and there was no history of consanguinity. A review of the history and physical findings in our patient and in the four other patients previously reported in the literature is provided, with a discussion on pathogenesis, prognosis and the possible autosomal recessive mode of inheritance of the syndrome.     

Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3

We report on 2 patients with de novo terminal deletion of 6q. The first was a 4-month-old boy whose karyotype was 46, XY, del(6)(q24.3); the second a 2-year-old girl whose karyotype was 46, XX, del(6)(q25.3). The main anomalies in both patients included mental retardation, minor craniofacial and cerebral anomalies, and cardiac defects. The characteristic manifestations were imperforate anus in the first patient, and retinitis proliferans and a triatrial heart in the other. Comparison of clinical findings of our 2 patients with those of 18 previously reported patients with similar phenotypes suggests that terminal deletion of the 6q23 or 6q25 band is critical in producing the main anomalies of del(6q) syndrome. © 1992 Wiley-Liss, Inc.     

Diagnostic findings in alleged sexual abuse: symptoms have no predictive value

AIMS: To describe demographic characteristics and trends, indications for referral and medical findings in children and young people seen for suspected sexual abuse. METHODS: Retrospective review of consecutive medical records over a 7-year period. RESULTS: A total of 2310 new patients were seen for concerns about sexual abuse and/or genital symptoms, resulting in 2162 genital examinations, of which 2134 were statistically analysed. The age ranged from 1 month to 17 years, with peaks at 3 and 14 years. Eighty-six percent were female. Most were referred by statutory authorities, with a marked reduction in referral numbers from 1997. Where a perpetrator was described, 97% were male and 92% were family members or friends. Medical findings diagnostic of sexual abuse were found in 130 cases (6%). Diagnostic findings were more likely to be found in adolescent girls. For the most part, physical symptoms were of no value in differentiating between those who had been sexually abused and those who had not. CONCLUSIONS: The demographics are concordant with the literature. The reduction in referrals may reflect changes in practice by statutory authorities. In pre-pubertal children, referrals were often made on the basis of physical symptoms, which have no predictive value in the diagnosis of sexual abuse.