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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with Shprintzen-Goldberg syndrome was followed up for 24 years. The patient's parents were unrelated and unaffected. Walking and speech were delayed. Facial dysmorphism was obvious as well as pectus excavatum, scoliosis, bilateral dislocation of the radial heads, hammer toes and hallux valgus, pes planus, arachnodactyly, and camptodactyly. Skin was thin and fragile. CT scan showed ventricular enlargement. He had a mitral valve prolapse. He was operated on twice for bilateral inguinal and crural hernia and several times for his foot deformities. Puberty was delayed until 18 years. At 24 years of age he was still thin, dolichocephalic, and the facial dysmorphic features were still obvious. Pectus excavatum was still severe but the thoracolumbar scoliosis was mild. His foot deformities had improved and his joints were less hypermobile. Psychomotor development was quite normal. His main concern was the minimal subcutaneous fat and fragility of skin. Echocardiography was now normal.
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PMID:Shprintzen-Goldberg marfanoid syndrome: a case followed up for 24 years. 1182 98

This study aimed to examine the frequency and nature of complications of vaginal prolapse surgery performed by members of SGS over a year and to determine the feasibility and the problems associated with prospective, multicentered collaborative data acquisition. A survey form, which included demographics, surgical indications, colpopexy type, concomitant procedures, technique, estimated blood loss (EBL), OR time, and intra/postoperative complications, was distributed to society members. The nature, extent, and solution of the complications were examined. There were 147 members of SGS at the time of the study. Many were reproductive endocrinologists and gynecologic oncologists. Twenty-one (14%) members participated. Three hundred forty-nine (349) completed forms were received: 187 sacrospinous fixations (SSF), 92 colposacropexies (CSP), and 70 high utero sacral suspensions (HUS). There were seven (3.7%) intraoperative complications for SSF, seven (7.6%) for CSP and three (4.3%) for HUS. There were four (2.1%) postoperative complications for SSF, six (6.5%) for CSP and none for HUS (NS). OR time was significantly longer for CSP vs. HUS ( P<.003) and for SSF vs. HUS ( p=.042). The EBL was significantly higher for SSF compared with CSP for the colpopexy procedure ( p=.013) and for entire cases ( p<.003). Analysis showed that all three colpopexies had significant intraoperative and postoperative complications of less than 8%. Intraoperative visceral damage was a concern for all three procedures. With SSF and CSP there was risk of bleeding and with HUS there was a risk of ureteral obstruction. Postoperative CSP complications were bowel obstruction, bleeding or hernia; for SSF neuropathy, and for HUS none. No life-threatening intraoperative or postoperative complications were reported. OR time was significantly shorter for HUS than SSF. The highest EBL was with SSF. Only 14% of the SGS membership responded, despite multiple requests for participation, demonstrating the difficulty of multicenter data gathering.
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PMID:A survey of the complications of vaginal prolapse surgery performed by members of the Society Of Gynecologic Surgeons. 1516 94

The Shprintzen-Goldberg syndrome (SGS) is a disorder of unknown cause comprising craniosynostosis, a marfanoid habitus and skeletal, neurological, cardiovascular, and connective-tissue anomalies. There are no pathognomonic signs of SGS and diagnosis depends on recognition of a characteristic combination of anomalies. Here, we describe 14 persons with SGS and compare their clinical findings with those of 23 previously reported individuals, including two families with more than one affected individual. Our analysis suggests that there is a characteristic facial appearance, with more than two thirds of all individuals having hypertelorism, down-slanting palpebral fissures, a high-arched palate, micrognathia, and apparently low-set and posteriorly rotated ears. Other commonly reported manifestations include hypotonia in at least the neonatal period, developmental delay, and inguinal or umbilical hernia. The degree of reported intellectual impairment ranges from mild to severe. The most common skeletal manifestations in SGS were arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility. None of the skeletal signs alone is specific for SGS. Our study includes 14 mainly German individuals with SGS evaluated over a period of 10 years. Given that only 23 other persons with SGS have been reported to date worldwide, we suggest that SGS may be more common than previously assumed.
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PMID:Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. 1633 34

Shprintzen-Goldberg syndrome (S-G) is a rare connective tissue disorder characterised by craniosynostosis, craniofacial dysmorphism, skeletal, cardiovascular, neurological, and other abnormalities. We herein present a case of a five-year-old Indian child who presented to our clinic with reducible umbilical hernia since birth, mental retardation, and delayed developmental milestones. After meticulous clinical examination with subsequent integration of clinical findings and investigations, we diagnosed her to possibly have Shprintzen-Goldberg syndrome. An attempt to compare the findings of our index case with the classical features as described by Greally et al. has been made. Given the rarity of this syndrome and the paucity of medical literature measuring the magnitude of this condition in the Indian population, this case serves to promote awareness of this rare entity.
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PMID:Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child. 2461 Oct 72