Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

A Neonate with an Unusual Midline Defect and Cardiovascular Anomaly.

ABSTRACT: We present a female neonate with a sternal cleft (SC) and additional aortic aneurysm who presented with respiratory failure. Stabilization of the SC was achieved by using the xyphoid process as an autologous graft bridging the upper part of the SC. We conclude that a step-wise correction of the SC with the use of an autologous graft may improve respiratory function, and should be considered when complete surgical correction is not feasible.

SUBMITTER: Poryo M

PROVIDER: S-EPMC5786149 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

A Neonate with an Unusual Midline Defect and Cardiovascular Anomaly.

Poryo Martin M Hoffmann Paul P Schäfers Hans-Joachim HJ Meier Clemens-Magnus CM Altmeyer Katrin K Abdul-Khaliq Hashim H Zemlin Michael M Meyer Sascha S

European journal of pediatric surgery reports 20180122 1

We present a female neonate with a sternal cleft (SC) and additional aortic aneurysm who presented with respiratory failure. Stabilization of the SC was achieved by using the xyphoid process as an autologous graft bridging the upper part of the SC. We conclude that a step-wise correction of the SC with the use of an autologous graft may improve respiratory function, and should be considered when complete surgical correction is not feasible. ...[more]

PMID: 29379702

Similar Datasets

An Unusual Cause of Respiratory Distress in Term Neonate.

Project description:We report a female infant who was born at 41+6 weeks of gestation to a consanguineous parent, and the initial newborn examination was within normal. At 12 hours of age, she developed tachypnea; with desaturation, she had continuous thick whitish oral secretion. Admitted to the neonatal intensive care unit (NICU) for further management, her initial blood investigation, including blood gas and chest X-ray, was normal. Due to the persistent unexplained respiratory distress with a normal chest X-ray, we obtained a further history from parents with three siblings with respiratory symptoms but no definitive diagnosis. The genetic testing of whole-exome sequences (WES) confirmed a homozygous variant c.804_806del, p.(Lys268del) in the RSPH9 gene that causes primary ciliary dyskinesia (PCD). Her three siblings were tested and found to have the same genetic mutation.

| S-EPMC9428618 | biostudies-literature

Incomplete transverse vesical septum: An unusual congenital anomaly.

Project description:A rare case of incomplete transverse vesical septum with urinary tract tuberculosis is being reported. A 52-year-old male presented with lower urinary tract and systemic symptoms. On investigation he had anemia, leucocytosis, and high serum creatinine. On cystopanendoscopy, there was a transverse ledge of tissue connecting the two lateral walls of the bladder approximately 4 cm proximal to the bladder neck dividing the caudal vesical cavity into anterior and posterior parts. Also, the left ureteric orifice had double barrel look. To our knowledge this is the first ever reported case of incomplete transverse vesical septum.

| S-EPMC3424898 | biostudies-literature

Unusual presentation of Gerbode defect.

Project description: Not available

| S-EPMC3368455 | biostudies-literature

Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus.

Project description:VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies. We report the unique case of an infant of diabetic mother with VACTERL association and a branchial arch anomaly-in the absence of hydrocephalus.

| S-EPMC4737631 | biostudies-other

Perineal Groove: A Rare Congenital Midline Defect of Perineum.

Project description:Perineal groove is a rare congenital malformation that is characterized by an exposed wet sulcus with nonkeratinized mucous membrane that extends from the posterior vaginal fourchette to the anterior ridge of the anal orifice. This condition is one of the uncommon anomalies of urogenital/anogenital region that is unknown to many clinicians. Although, this condition may be self-resolved before the age of 2 years, this nonepithelized mucous membrane can pose the risk of local irritation and infection, urinary tract infection, and the possibility of nonself-resolved condition that eventually needs surgical correction. Only a few reported cases (n = 23) were found in current medical literatures. This lesion could be misdiagnosed as contact dermatitis, trauma, or even sexual abuse. Therefore, recognition of the congenital perineal groove at birth is important for the health care providers to deliver an appropriate parental counseling and appropriate follow-up.

| S-EPMC4737640 | biostudies-other

Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome.

Project description:Chromosome 1q21.1 deletion syndrome is associated with a wide variety of clinical features including mild to moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts. We report an unusual case of a premature neonate with persistent hyponatremia, markedly elevated plasma arginine vasopressin level (32.7 pg/mL), and clinical findings consistent with the syndrome of inappropriate antidiuretic hormone secretion (SIADH). The patient, who also had microcephaly and dextrocardia, was subsequently diagnosed with chromosome 1q21.1 deletion syndrome. Further evaluation revealed hypothalamic abnormalities, features not previously described with this syndrome. To our knowledge, this is the first report of SIADH associated with congenital hypothalamic anomalies in a neonate with chromosome 1q21.1 deletion syndrome. We also report our experience using tolvaptan, a vasopressin receptor antagonist, in this patient to effectively maintain eunatremia.

| S-EPMC6193093 | biostudies-literature

An unusual localization of the umbilicus in a neonate.

Project description:We report the case of a male neonate with a low-set umbilicus. Physical examination revealed an appropriately grown term infant with no unusual findings, except ectopically placed umbilical cord at the level of the bladder in the hypogastric zone. The infant underwent detailed investigations that revealed no associated malformation. To the best of our knowledge, this is the first case with very distinct localization of the umbilicus without any congenital abnormalities.

| S-EPMC4336052 | biostudies-other

Unusual manufacturing defect of the endotracheal tube: Problem revisited.

Project description: Not available

| S-EPMC4810932 | biostudies-literature

MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA).

Project description:We investigated a hereditary syndrome in Cane Corso dogs. Affected dogs developed dental-skeletal-retinal anomaly (DSRA), clinically characterized by brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss. Combined linkage and homozygosity mapping delineated a 5.8 Mb critical interval. The comparison of whole genome sequence data of an affected dog to 789 control genomes revealed a private homozygous splice region variant in the critical interval. It affected the MIA3 gene encoding the MIA SH3 domain ER export factor 3, which has an essential role in the export of collagen and other secreted proteins. The identified variant, XM_005640835.3:c.3822+3_3822+4del, leads to skipping of two exons from the wild type transcript, XM_005640835.3:r.3712_3822del. Genotypes at the variant were consistent with monogenic autosomal recessive mode of inheritance in a complete family and showed perfect genotype-phenotype association in 18 affected and 22 unaffected Cane Corso dogs. MIA3 variants had previously been shown to cause related phenotypes in humans and mice. Our data in dogs together with the existing functional knowledge of MIA3 variants in other mammalian species suggest the MIA3 splice defect and a near complete loss of gene function as causative molecular pathomechanism for the DSRA phenotype in the investigated dogs.

| S-EPMC8535341 | biostudies-literature

Management of a premature low birth weight neonate with Ebstein anomaly and persistent circular shunt using modified Starnes procedure.

Project description: Not available

| S-EPMC8311602 | biostudies-literature