ESOPHAGEAL ATRESIA WITH RECURRENT TRACHEOESOPHAGEAL FISTULAS AND MICRODUPLICATION 22q11.23.

The microduplication 22q11.2 syndrome has a wide range of clinical manifestations. The phenotype ranges from normal to mental retardation and congenital anomalies. Esophageal atresia/tracheoesophageal fistula (EA/TEF) has recently been linked with the Tbx1 gene mutation located on the long arm of chromosome 22(22q11.21). We report a case with 1.4 Mb 22q11.23 duplication detected by array-CGH. The father of this infant has the same interstitial microduplication but with a normal phenotype. The phenotype seen in our case is type C (3B) esophageal atresia, tracheoesophageal fistula, and ventricular septal defect. Our patient underwent primary repair of OA/TEF malformations, which was later complicated by pneumonia and a recurrent TEF.

Ectopia cordis.

We report on a preterm male newborn with complete ectopia cordis associated with Cantrell's syndrome. The neonate had an ectopia cordis involving defects of the lower sternum, supraumbilical abdominal wall, anterior portion of the diaphragm, and diaphragmatic portion of the pericardium associated with complex congenital heart defects. The infant died shortly after birth. We discuss this case and review the literature.

Partial trisomy 10p12.33 and partial monosomy 13q32.1: case report and a literature review.

We report on a preterm neonate with a deletion of the distal long arm of chromosome 13q32.1 and partial trisomy of the short arm of chromosome 10p12.33. The patient has intrauterine growth retardation, microphthalmia, macrocephaly, holoprosencephaly, patent ductus arteriosus, aortic isthmus hypoplasia, right renal agenesis, imperforate anus, ambiguous genitalia, pleural effusion and vertebral anomaly. Analysis using an oligonucleotide microarray (U-array Cyto6000 array platform (Human Genome build: hg 18) indicated that there was a partial trisomy of chromosome 10(19.5 Mb gain) involving 298 oligonucleotides from 10pter to 10p12.33, and a partial monosomy of chromosome 13(18.3 Mb deleted) involving 313 oligonucleotides from 13q32.1 to 13qter. This is the first report of a patient with partial trisomy 10p12.33 and partial monosomy 13q32.1.

A Y/15 translocation in a 45,X male with Prader-Willi syndrome.

We report a male neonate with a 45 X karyotype; the long arm of a chromosome 15 was translocated onto the proximal long arm of the Y chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal 15q13 and Yq11.2. The derivative chromosome has no primary centromere. Clinical features were compatible with Prader-Willi syndrome. This is the first report case ofmonosomy 15q and Yq deletion with Prader-Willi syndrome.

Otocephaly, and pulmonary malformation association: two case reports.

Otocephaly is a rare lethal malformation of the first and second branchial arches. We report two infants with otocephaly and failed resuscitation. Both infants had pulmonary malformations: pulmonary hypoplasia and two-lobed right lung. We report these rare associations with a brief review of the literature.

Partial trisomy 8q and partial monosomy 18p: a case report.

We report clinical observations and cytogenetic studies of an inherited partial trisomy 8q and partial monosomy 18p. A full trisomy 8 syndrome (Warkany syndrome) is a clinically recognized syndrome. Partial trisomy 8q has been reported sporadically in the literature with variable phenotypes. Partial monosomy 18p, deletion of the short arm of chromosome 18, is also a well-recognized syndrome. This is the first report to the best of our knowledge of partial trisomy for distal 8q and partial monosomy for distal 18p occurring together in a patient.

Monosomy 11Q: report of new phenotypic manifestations.

We present a case of new phenotypic findings not previously reported associated with a partial deletion of chromosome 11 with a break point at 23q - (46,XY,del(11)(q23). Partial deletion of chromosome 11q was first described by Jacobsen et al(4). Forty-eight patients have been reported during the last 30 years, with variable break points between 11q11 and 11qter. New phenotypic findings in our patient with the associated 11q deletion are imperforate anus, bilateral cataracts, and hypoplastic, multilobed lungs.

Congenital colonic stenosis.

We report the case of an infant with congenital colonic stenosis in the ascending colon and review the literature regarding this uncommon condition.

Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings.

Congenital localized absence of the skin has been observed in various subsets of inherited epidermolysis bullosa (EB). Pyloric atresia is a rare disorder that has been seen in association with EB. Ureterovesical junction obstruction is a condition unique to the association between pyloric atresia and EB. The authors describe 2 premature male siblings with pyloric atresia, congenital localized absence of the skin, urinary obstruction, and EB at birth. Electron microscopic study of the biopsy specimen from the first sibling revealed characteristic findings of EB simplex. However, prenatal diagnosis of the next sibling was made by integrin B4 mutations and the electron microscopic study of the biopsy specimen after delivery confirmed junctional EB (JEB). These cases emphasize this unusual combination of defects and limitations of electron microscopy.

Congenital lobar emphysema.

Congenital lobar emphysema is a cause of respiratory distress during infancy that may present a diagnostic problem. Recognition of this entity is rewarding, because excisional therapy is fairly specific and the results are satisfactory. We present two infants aged 7 weeks and 2 days with congenital lobar emphysema who were diagnosed and treated in our institution for the past two years. Published work is reviewed; diagnostic and treatment issues are discussed.

Epidermolysis bullosa associated with congenital localized absence of skin, fetal abdominal mass, and pyloric atresia.

A 2320-g male infant was delivered at 35 weeks gestation to a mother who had polyhydramnios. He had a combination of congenital localized absence of skin, unilateral hydronephrosis, and hydroureter due to ureterovesical obstruction, and nonbilious vomiting due to pyloric atresia. Blistering of the skin developed after birth. Epidermolysis bullosa simplex was confirmed by electron microscopy of a skin biopsy specimen. We describe this patient, who had three unusual manifestations of epidermolysis bullosa.

Group B streptococcal meningitis: a case of transverse myelitis with spinal cord and posterior fossa cysts.

Myelopathy is an infrequently reported complication of bacterial meningitis. We report the case of a preterm neonate with group B streptococcal meningitis who developed acute transverse myelopathy with subsequent spinal cord cavitation noted by MRI. The destruction of the cerebellum and obstructive hydrocephalus resulted in a posterior fossa cyst.

Postnatal intussusception in a premature infant, causing jejunal atresia.

The authors report on a 5-week-old boy who presented with bilious gastric aspirates. He became intolerant to feedings after 1 week of adequate feeding and passage of stools. Based on clinical and radiological findings, the diagnosis of intestinal obstruction was made. During laparotomy, atresia of the proximal jejunum was found. The lumen of the distal segment contained an intussusceptum. The blind ends were resected, and end-to-end anastomosis was performed.

An unusual cause of congenital ascites.

A newborn premature male with hydrops fetalis and massive congenital ascites is presented. The ascites recurred despite repeated paracenteses. The ascites was possibly due to a portal vein obstruction caused by malposition of the portal vein and malrotation of the small intestine. This is the first case report of congenital ascites associated with malposition of the portal vein.

A new incision for pyloromyotomy.

Over the past two years forty infants with hypertrophic pyloric stenosis have been operated on using a supraumbilical transverse midline skin incision with retraction of the two rectus muscles apart. This incision has given us good exposure, has improved the delivery of the pylorus, produced a strong closure, and given a good cosmetic result. We propose this incision as an alternative to be used in the operative approach to the pylorus in the treatment of hypertrophic pyloric stenosis.

A new method for the prevention of skin sloughs and necrosis secondary to intravenous infiltration.

Skin sloughs and necrosis from hypertonic solutions may occur in premature infants receiving peripheral intravenous fluid therapy. A simple multiple puncture method is proposed to remove the infiltrate and prevent skin sloughs.

Surgical repair of the injured spleen.

Fatal sepsis has been reported with increasing frequency following splenectomy for trauma. Efforts to save the spleen were made in 17 children with blunt abdominal trauma. Two patients required splenectomy, but 15 were managed successfully by splenic repair. No patient required reoperation, and there were no complications. Follow-up scans were remarkably normal. It is concluded that splenic lacerations are usually amenable to suture repair, and splenorrhaphy, not splenectomy, is the treatment of choice for splenic injury.

Myxoma of the maxilla: report of case.

A review of the literature and a report of a case of myxoma of the maxilla in a 1-year-old Negro girl have been presented. This case is interesting because of its rarity at this age and its location. Originally, a Weber-Ferguson approach was considered. However, a transoral approach provided excellent access for complete visualization and removal of the tumor. This reinforces the advantages to the patient that result from the cooperation of different surgical services.