Abstract: BACKGROUND: Orofacial clefts are common congenital malformations usually characterized by a multifactorial etiology. These heterogeneous defects comprise cleft lip (CL), CL with cleft palate (CL/P), and cleft palate, sometimes observed in recognizable syndromes, with mendelian, chromosomal, or environmental pathogenesis. The Van der Woude syndrome is a mendelian CL/P, accounting for about 2% of all cases and caused by mutations in the interferon regulatory factor 6 (IRF6) gene, located on 1q32.2 chromosome. OBJECTIVE: Here, we describe a familial case with a novel IRF6 mutation segregating in the maternal line, displaying a highly intrafamilial variable clinical expression. CONCLUSION: This report emphasizes the role of the clinician in recognizing the clinical variability and the genetic heterogeneity of CL/P.
Abstract: OBJECTIVE: Many authors consider surgical therapy of pediatric ranula and intraoral mucocele as the election treatment. Recently, an intracystic sclerosing injection with OK-432 has been proposed as a ranula primary treatment. This preliminary study evaluates the effectiveness of the use of Nickel Gluconate-Mercurius Heel-Potentised Swine Organ Preparations as the primary treatment of pediatric ranula and intraoral mucocele. METHODS: Eighteen children (9 ranulas, 9 labial mucoceles, 2 lingual mucoceles) were treated with oral administration of Nickel Gluconate-Mercurius Heel-Potentised Swine Organ Preparations D10/D30/D200. RESULTS: Eighty-nine percent ranulas (8 out of 9), 67% labial mucoceles (6 out of 9) completely responded to the therapy. One ranula, that interrupted therapy after only 4 weeks, was subjected to marsupialization in another hospital. A double mucocele case partially responded (one of the two was extinguished), another case incompletely responded, decreasing the size beyond 50%, and just one case, changing volume, resisted the therapy. Lingual mucocele healed at once. Blandin-Nuhn polypoid congenital mucocele responded to the treatment with gradual reabsorption, permitting surgical excision of the atrophic polypoid remnant, without removing glands of origin. No solved case showed recurrence (follow up range: 4-32 months). CONCLUSION: Homotoxicological therapy with Nickel Gluconate-Mercurius Heel-Potentised Swine Organ Preparations D10/D30/D200 is an effective primary treatment of pediatric ranula and intraoral mucocele.
Abstract: We report on an Italian boy, born to normal and nonconsanguineous parents with a prenatal diagnosis of ventriculomegaly and subependymal glial heterotopias. At birth bilateral macrostomia was diagnosed without other evident facial anomalies. Magnetic resonance imaging (MRI) showed triventricular hydrocephalus and aqueductal stenosis and confirmed the nodules of glial heterotopia. The bilateral macrostomia was surgically corrected with the vermilion square flap method and W-plasty technique and follow up MRI at 6 months showed mild increase of ventricular dilatation without signs of active hydrocephalus. The association between macrostomia and hydrocephalus has been reported only in rare cases of complex malformative syndromes but never with isolated macrostomia.
Abstract: AIM: The authors analyze the anatomical, etiopathogenetic and clinical characteristics of ganglia of the hand and especially the radio-carpus, which represent the most frequent cause of wrist swelling in pediatric age. They underline the importance of an adequate period of clinical observation and splint treatment, as the first methodical choice, rather than aspiration or surgical immediate resection. METHODS: The experience of the authors is based on splinting and/or surgical treatment on a series of 15 patients with wrist ganglion, with a follow-up of 4 years. The period of clinical observation had never been less than 6 months and the static splint had been recommended during nocturnal hours only, on a 3-4 month basis at least. RESULTS: Two thirds of the cases showed spontaneous re-absorption of the ganglion, while in the remaining third part a surgical indication of removal had been suggested, due to absence of spontaneous remission and the presence of trouble or pain in movements. The authors never practice the aspiration of the content of the ganglion, since recent literature advises against it due to the high percentage of recurrence observed. CONCLUSIONS: The clinical observation and the dedicated nocturnal splinting of the wrist ganglia in pediatric age represent the first treatment advocated. Surgery is suggested in cases unsolved with a conservative therapy. Aspiration is strongly discouraged.
Abstract: Cleft lip and palate associated with cervical aplasia cutis
Sorasio L., Ferrero G.B., Valenzise M., Pucci A., Pepe E. and Silengo M.
Italian Journal of Pediatrics 2003 29:1 (9-11)
We report the case of a patient born to healthy, non consanguineous parents, after 34 weeks of gestation. Pregnancy was remarkable for IUGR, oligohydramnios and an ultrasound diagnosis of right multicystic kidney. Birth weight was 1380 g, length 39 cm, head circumference 28.5 cm (parameters < 3rd percentile). At physical examination the proposita showed bilateral cleft lip and palate, malformed and low set ears, cervical areas of aplasia cutis, hypertelorism and telecanthus. All these manifestations are reported in the branchio-oculo-facial syndrome, a rare condition characterized by branchial and ocular abnormalities, cleft lip, auricular and nasal defects. BOF inheritance is autosomal dominant; since its molecular pathogenesis is still unknown, BOF diagnosis remains clinical. In our case the diagnosis is supported by pathologic examination of the excised skin lesions showing branchial and thymic remnants.
Disease Termsopen all disease terms
autosomal dominant disorder, cleft lip palate, head and neck malformation, intrauterine growth retardation, multicystic dysplastic kidney, oligohydramnios, skin aplasia
Other Terms
article, birth weight, case report, female, fetus echography, head circumference, histopathology, human, human tissue, infant
Correspondence Address
Sorasio L.: Genetica Clinica, Dipto. di Sci. Pediat./Adolescenza, Università di Torino, Torino, Italy.
Author Addresses
Sorasio L., Ferrero G.B., Valenzise M., Silengo M.: Genetica Clinica, Dipto. di Sci. Pediat./Adolescenza, Università di Torino, Torino, Italy.
Pucci A.: Dipartimento di Patologia Clinica, O.I.R.M. di Torino, Torino, Italy.
Pepe E.: Dipartimento di Chirurgia, O.I.R.M. di Torino, Torino, Italy.
Copyright
Copyright 2007 Elsevier B.V., All rights reserved.
Additional Information
Abbreviated Journal Title Ital. J. Pediat.
ISSN 17208424
CODEN IJPTB
Source Type Journal
Source Publication Date 2003-02-01
Entry Date 2003-05-06 (Full record)
Publication Type Article
Page Range 9-11
Country of Author Italy
Country of Source Italy
Language of Article English
Language of Summary English, Italian
Embase Accession Number 2003170299
Number of References 9
Cited by in Scopus 0
Abstract: A girl with oral, facial, and digital anomalies presented at birth with a large cleft palate filled by a nasopharyngeal mass and was found later to have several vertebral anomalies and mental retardation. A similar phenotype has been previously reported in a sporadic male patient [Gabrielli et al., 1994: Am J Med Genet 53:290-293], suggesting a new variant form of oral-facial-digital syndrome.
Abstract: Computerized prediction of perforating appendicitis in children
LiVoti G., Pepe E., Tulone V., Coniglio V. and Cataliotti F.
Theoretical Surgery 1989 4:4 (202-204)
The authors describe the possibility of making decisions on the treatment of patients with an acute abdomen (operate or adopt a wait-and-see policy), relying on the theoretical risk of perforation. This risk is calculated taking into account the age of the patient, delay in diagnosis, and the score allocated on the basis of the data processed by the computer (based on Bayes theorem). Extensive testing of this approach resulted in 10%-12% false-positive diagnoses, with no false-negatives in the lowest scoring group. These figures support the use of a computerized aid to estimate the risk of perforating appendicitis.
Disease Termsopen all disease terms
appendicitis, perforation
Other Terms
age, article, computer analysis, human, methodology, preoperative evaluation, priority journal, risk factor, theoretical study
Correspondence Address
Clinica Chirurgica Pediatrica, Ospedale E. Albanese, Universita di Palermo, Via Papa Sergio I/5, 90146 Palermo, Italy.
Author Address
LiVoti G., Pepe E., Tulone V., Coniglio V., Cataliotti F.: Clinica Chirurgica Pediatrica, Ospedale E. Albanese, Universita di Palermo, Via Papa Sergio I/5, 90146 Palermo, Italy.
Copyright
Copyright 2007 Elsevier B.V., All rights reserved.
Additional Information
Abbreviated Journal Title THEOR. SURG.
ISSN 01798669
CODEN THSUE
Source Type Journal
Source Publication Date 1989-01-01
Entry Date 1989-12-01 (Full record)
Publication Type Article
Page Range 202-204
Country of Author Italy
Country of Source Germany
Language of Article English
Language of Summary English
Embase Accession Number 1990029627
Cited by in Scopus 0
Abstract: The authors report 3 cases of anular pancreas and consider the main clinical and differential diagnosis aspects of them. Afterwards they dwell upon the etiopathogenesis of this congenital malformation that is consequent not only upon extrinsic pancreatic compression but also upon a contemporary atresia or stenosis of duodenum. That however conditions the management; it will be apply to remove also the intrinsic obstruction of stenotic intestinal segment.
