[Esophageal atresia in the Goldenhar syndrome]. / Atresia de esófago en el síndrome de Goldenhar.

Among the multiple congenital defects associated to esophagueal atresia, the characteristic ones of the Goldenhar syndrome usually are not included. The high incidence has been reported, about 5% of esophagueal atresia in patients with Goldenhar syndrome. Our experience includes two patients with this association who presented anesthetic problems and surgical complications associated with gastroesophageal reflux and esophageal anastomosis.

First report of a patient with a mixoploidy 47,XXX/94,XXXXXX.

We present a 16 years old female with a chromosomal mixoploidy and multiple phenotypic anomalies. Peripheral blood G-band karyotype was 47,XXX and her skin fibroblast karyotype revealed a mosaic with a 47,XXX cell line in 88% of metaphases and a 94,XXXXXX cell line in 12% of metaphases, consistent with a hypertetraploidy. The most prominent clinical signs were: short stature, left upper limb asymmetry, senile-like appearance, generalized hypertrichosis, and small hands and feet. Radiological examination showed bone dysplasia. The result of molecular studies demonstrated that the patient inherited the two X chromosomes from the mother and one from the father, indicating that her 47,XXX trisomy resulted from an oogenesis error in the first meiotic division. The 94,XXXXXX cell line was likely the result of a cytokinesis error. To our knowledge, this is the first documented patient with a trisomy and a hypertetraploidy.

[Familial adenomatous polyposis: Gardner's syndrome]. / Poliposis adenomatosa familiar: síndrome de Gardner.

Familial adenomatous polyposis (PAF) associated to soft tissue tumors or osteomas constitutes the Gardner's syndrome of autosomal dominant inheritance. The risk of colorectal cancer in these patients is 100%. We present a patient with Gardner's syndrome who was had colectomy at early age. An eleven years old boy he was evaluated due to a family history of PAF and subcutaneous tumors (occipital and left thigh). Genetic profile shows a mutation in gene APC and the colonoscopy confirms the polyposis; the biopsy also suggested moderate dysplasia. When the patient reached the age of twelve, a total colectomy with colorectal mucosectomy was performed. Cystic subcutaneous lesions (epidermoid cysts) were also excised. In the postoperative period there were no complications. The prophylactic colectomy, is the only effective treatment to prevent the colorectal cancer. Gardner's syndrome patients requires periodic controls to rule out the appearance of new tumors or anomalies in the retine. The duodenoscopy is essential in the follow up of these patients because of the frequency of duodenal affectation.

Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum.

Tracheoesophageal fistula, with or without esophageal atresia (TEF/EA) appears to be a defect of blastogenesis, as is the oculoauriculovertebral (Goldenhar) spectrum (OAVS), with which it has occasionally been associated. We reviewed the records of all OAVS patients evaluated through the University of South Florida Regional Genetics Program between 1985 and 1993. Of 60 OAVS patients, three had TEF/EA. These results suggest that TEF/EA in association with OAVS is underreported. The occurrence of TEF/EA should prompt a thorough search for other known anomalies of OAVS.

Clitoromegaly in neurofibromatosis.

Genitourinary neurofibromas are rare and clitoral involvement in neurofibromatosis (NF) has been reported infrequently. However, when it occurs, clitoromegaly is often the presenting sign. In many cases, it is congenital. In 236 families with type 1 neurofibromatosis (NF-1) evaluated through the USF Regional Genetics Program between January 1982 and September 1993, four patients had clitoral involvement. In three, involvement was limited to the clitoris. Biopsy/surgical excision in two of them showed a neurofibroma in one and non-specific hamartomatous soft tissue overgrowth in the other. In the fourth patient, the involvement was asymmetric and extended to the labia majora and mons pubis. Endocrine studies and chromosomes in all patients were normal; there was no exposure to androgens, progestins, or coumadin. There was no gestational history of maternal luteomas. Review of the literature documented 26 patients with NF and clitoral involvement. Clitoral involvement in NF-1 appears to be more common than previously reported and the differential diagnosis of ambiguous genitalia should include clitoromegaly due to NF. Pathogenesis of clitoral lesions appears similar to other lesions of NF. Biopsy of such lesions appears to be justified only when malignancy is suspected.

[Diagnostic significance of systematic neonatal urinary echography. Therapeutic implications]. / Valor diagnostico de la ecografia urinaria sistematica neonatal. Implicaciones terapeuticas.

A total of 9,959 ultrasonography studies of the upper excretory urinary system during the first three days of life of all the children born in this centre were carried out over a period of three years. Sonographic abnormalities were found in 125 patients (1.26 per 100) consisting of: Prominent pelvis in 35, pyelic ectasia in 45, hydronephrosis in 16, ureterohydronephrosis in seven, renal agenesis in 14, multicystic kidney in two, renal ectopia en two, other anomalies in four. There had been prenatal sonographic diagnosis of the urinary tract abnormality in 24 patients, all with pyelic ectasia or hydronephrosis. The sonography of the patients with prominent pelvis normalized before three months of age. Intravenous urography was performed on most of the remaining 90 patients, confirming the diagnosis in the greater part, and serial voiding cystourethrography which detected vesicoureteric reflux in 21 of 77 patients. The definitive diagnosis was arrived at in all patients after carrying out the sonography and the uroradiological test. This made prophylactic antibiotic treatment possible in many of the cases and surgical correction of the anomaly in 30, performing pyeloureteroplasty in 11, neo-ureterocystostomy in 10, nephrectomy in five, heminephroureterectomy in three and derivation to the skin in one. Twenty of these patients were operated before three months of age. The number of uropathies operated at early ages at this centre has risen remarkably since introduction of systematic neonatal urinary sonography.