[Sensitivity and specificity of endoscopy for the detection of velocardiofacial syndrome]. / Sensibilidad y especificidad de la endoscopia para la detección del síndrome velocardiofacial.

INTRODUCTION: Velo-cardio-facial syndrome (VCFS) (also known as DiGeorge sequence, and 22q11.2 deletion syndrome among other labels) is now recognized as the most common syndrome associated with cleft palate and velopharyngeal insufficiency. 22q11.2 deletion syndrome has been associated with medially positioned internal carotid arteries. This anomaly may be associated with posterior pharyngeal pulsations seen on endoscopy. The purpose of this paper is to study the diagnostic efficacy of the endoscopy for the detection of patients with 22q11.2 deletion syndrome, using as gold standard test the fluorescence in situ hybridization (FISH) test. MATERIAL AND METHODS: Twenty nine patients with submucous cleft palate, velopharyngeal insufficiency, and 22q11.2 deletion as demonstrated by FISH were studied. Also, 29 patients with submucous cleft palate, and without abnormalities in the FISH procedure, were studied as controls. All patients from both groups underwent endoscopy. A double-blind procedure was utilized whereby all videonasopharyngoscopies were independently revised by the two examiners. RESULTS: Twenty five patients with VCFS demonstrated posterior pharyngeal pulsations seen on endoscopy (sensitivity of 86%). In contrast, none of the patients from the control group showed posterior pulsations (specificity of 100%). Positive predictive value was 100%, and negative predictive value was 87%. CONCLUSIONS: Endoscopy seems to be a safe and reliable procedure for evaluating patients with 22q11.2 deletion syndrome. The observations of posterior pharyngeal wall pulsations on endoscopy should alert clinicians to the diagnosis of 22q11.2 deletion, and also, can be useful for preventing the risk of damage to the carotid arteries during velopharyngeal surgery. This indicates another important role of endoscopy in the preoperative assessment of children for palatopharyngoplasty.

Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome).

INTRODUCTION: Velo-cardio-facial syndrome (VCFS) (also known as DiGeorge sequence, conotruncal anomaly face syndrome, 22q11.2 deletion syndrome among other labels) is now recognized as the most common syndrome associated with cleft palate and velopharyngeal insufficiency. VCFS has been associated with medially positioned internal carotid arteries. This anomaly has been associated with obvious posterior pharyngeal pulsations seen on videonasopharyngoscopy. The purpose of this paper is to study the role of videonasopharyngoscopy for the evaluation of patients with VCFS and submucous cleft palate. MATERIALS AND METHODS: Twenty patients with submucous cleft palate, velopharyngeal insufficiency, and 22q11.2 deletion as demonstrated by fluorescence in situ hybridization (FISH) were studied. Also, 20 patients with submucous cleft palate, and without abnormalities in the FISH procedure, were studied as controls. All patients from both groups underwent videonasopharyngoscopy. A double-blind procedure was utilized whereby all videonasopharyngoscopies were independently revised by the two examiners. RESULTS: Both examiners coincided that 17 patients with VCFS demonstrated obvious posterior pharyngeal pulsations seen on videonasopharyngoscopy. In contrast, both examiners agreed that none of the patients from the control group showed posterior pharyngeal pulsations. CONCLUSIONS: Videonasopharyngoscopy seems to be a safe and reliable procedure for evaluating patients with VCFS. The observations of posterior pharyngeal wall pulsations on videonasopharyngoscopy should alert clinicians to the diagnosis of VCFS. Also, the findings of videonasopharyngoscopy can be useful for preventing the risk of damage to the carotid arteries during velopharyngeal surgery. This indicates another important role of videonasopharyngoscopy in the preoperative assessment of children for palatopharyngoplasty.

Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity.

Congenital generalized hypertrichosis terminalis has been described in association with other features as gingival hyperplasia, osteochondrodysplasia, and a dysmorphic face. Bondeson and Miles [1993: Am J Med Genet 47:198-212] described a woman with universal congenital hypertrichosis terminalis associated with gingival hyperplasia; the face of this patient was coarse and different from other forms of hypertrichosis described before. We present an 11-year, 6-month-old girl with universal congenital hypertrichosis terminalis, gingival hyperplasia, and a characteristic coarse face resembling the patient described by Bondeson and Miles [1993: Am J Med Genet 47:198-212]. We propose that this type of congenital generalized hypertrichosis terminalis, associated with gingival hyperplasia and a coarse face, is a distinctive new entity.

Microsatellite analysis in Turner syndrome: parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes.

Turner syndrome is a chromosomal disorder in which all or part of one X chromosome is missing. The meiotic or mitotic origin of most cases remains unknown due to the difficulty in detecting hidden mosaicism and to the lack of meiotic segregation studies. We analyzed 15 Turner patients, 10 with a 45,X whereas the rest had a second cell line with abnormal X-chromosomes: a pseudodicentric, an isochromosome, one large and one small ring, and the last with a long arm deletion. Our aims were: to detect X cryptic mosaicism in patients with a 45,X constitution; to determine the parental origin of the abnormality; to infer the zygotic origin of the karyotype and to suggest the timing and mechanism of the error(s) leading to the formation of abnormal X chromosomes from maternal origin. Molecular investigation did not revealed heterozygosity for any microsatellite, excluding X mosaicism in the 45,X cases. Parental origin of the single X chromosome was maternal in 90% of these patients. Three of the structurally abnormal Xs were maternally derived whereas the other two were paternal. These results allowed us to corroborate breakpoints in these abnormal X chromosomes and suggest that the pseudodicentric chromosome originated from post-zygotic sister chromatid exchange, whereas the Xq deleted chromosome probably arose after a recombination event during maternal meiosis.

Epilepsia y embarazo. Riesgos y beneficios del tratamiento anticonvulsivo / Epilepsy and pregnancy: risks and benefits of anticonvulsant treatment

La epilepsia en el trastorno neurológico más frecuente durante la gestación. Una de las principales preocupaciones que enfrenta el médico se relaciona con los potenciales efectos indeseables que los fármacos anticonvulsivos pudieron ejercer sobre el curso del embarazo y el desarrollo fetal. El objetivo del presente trabajo fue investigar las complicaciones maternas y obstétricas en 50 epilépticas embarazadas, así como los posibles efectos teratogénicos de diversos agentes anticonvulsivos sobre los recién nacidos de dichas pacientes atendidas en el Hospital General "Dr. Manuel Gea González" SSA, de 1989 a 1992. Los resultados indican que el 78 por ciento de las pacientes recibieron tratamiento a base de carbamezepina o difenilhidantoína y solamente 10 por ciento requirieron una combinacion de fármacos. La mayor parte de las gestaciones (76 por ciento) se resolvió por vía vaginal, y únicamente en tres neonatos (6 por ciento) se detectaron malformaciones congénitas menores, como hipoplasia de falanges y anomalías estructurales del pabellón auricular. Estos datos sugieren que existe un margen de seguridad aceptable en el empleo de anticonvulsivos en pacientes epilépticas durante el embarazo, especialmente cuando el control de las crisis convulsivas puede lograrse con un sólo fármaco