A retrospective study was conducted on the prevalence of congenital malformations in Cross River and Akwa Ibom states of Nigeria from 1980-2003. These states lie in the South-South geopolitical zone of Nigeria. The aim of the study was to determine the percentage of occurrence of birth defects and provide reference data for this part of the country. Details of congenital malformations were compiled by reviewing the delivery register of the records departments of maternity sections of University of Calabar Teaching Hospital, St Luke's Hospital Anua and St Mary's Hospital Uruakpan. A total of 127,929 births were recorded, of which 452 cases of malformations were recorded. The anomalies recorded in the skeletal system were the highest with 132 cases (29.2%) detected. Other malformations were found to be associated with the central nervous system with 111 cases (24.6%) detected. Those associated with the urogenital system were found in 83 cases (18.4%). Congenital anomalies of the lip, palate and jaw were found in 56 cases (12.4%), while those of the eye and ear were found in 12 cases (2.7%). Those of the gastrointestinal tract were found in 29 cases (6.4%), while those of the respiratory and cardiovascular systems were found in 28 cases (6.2%) and in one case (0.2%), respectively. Fifteen cases (3.3%) were associated with chromosomal abnormalities, such as Down syndrome. However, these results do not provide a complete incidence of congenital malformations in the two states studies because most anomalies are not recorded in rural health and traditional birth centers.
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http://dx.doi.org/10.1111/j.1741-4520.2008.00204.x | DOI Listing |
A A Pract
January 2025
Département d'Anesthésie, Hôpital Antoine Béclère, APHP.Université Paris-Saclay, Clamart, France.
We describe a patient with severe Arnold Chiari Malformation and syringomyelia who underwent gynecological laparoscopy in an emergency context; no brain imaging was available. We here report the successful use of optic nerve sheath diameter (ONSD) and middle cerebral artery (MCA) velocity measurements as surrogate monitoring for cerebral blood flow and intracranial pressure, respectively. MCA velocity was low when assessed after peritoneal insufflation and ONSD increased to 6.
View Article and Find Full Text PDFStomatologiia (Mosk)
January 2025
Central Research Institute of Dentistry and Maxillofacial Surgery, Moscow, Russia.
Hypoplasia of the upper jaw to one degree or another inevitably occurs in patients with cleft lip and palate. The most difficult task is to fix skeletal deformity of the upper jaw, especially the discrepancy between its transversal dimensions due to the high risks of recurrence after treatment. One of the key stages of rehabilitation of this group of patients is orthodontics and surgical treatment aimed at eliminating functional and aesthetic problems of the dental system.
View Article and Find Full Text PDFMultimed Man Cardiothorac Surg
January 2025
Maria Fareri Children's Hospital, Westchester Medical Center, Valhalla, NY, USA.
An 8-week-old, 3.4-kg infant, who was diagnosed prenatally with tetralogy of Fallot and absent pulmonary valve syndrome, was intubated after birth and failed extubation due to severe tracheobronchomalacia. He was deemed inoperable prior to being transferred to our institution.
View Article and Find Full Text PDFBr J Hosp Med (Lond)
December 2024
Department of Obstetrics and Gynecology, Rizhao People's Hospital, Rizhao, Shandong, China.
Prenatal diagnosis is a crucial tool in reducing birth defects. Research indicates that whole-exome sequencing (WES) is particularly effective for detecting abnormalities associated with structural ultrasound findings. This study aimed to evaluate the utility of WES in the genetic diagnosis of prenatal ultrasound abnormalities.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder. Although individuals with variants in the SMC1A gene are less commonly seen in CdLS, they exhibit a high incidence of epilepsy and atypical phenotypic variability.
Methods: The clinical data of a patient with non-classic CdLS and epilepsy caused by an SMC1A variant were summarized.
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