A case report on penile duplication: A rare congenital anomaly

Introduction: Penile duplication or penile diphallia is a rare congenital anomaly that is mainly associated with renal, anorectal or vertebral anomalies, that is, spina bifida. This condition was first described by Johannes Jacob Wecker in 1609 in Italy. Problem: Its incidence is extremely rare, about one in millions. The aetiology of this condition is unknown up till now; however, it is considered that defect of genital tubercle leads to the formation of diphallia. Methods: The condition is diagnosed clinically, and management depends on the appearance of genitalia and the associated anomalies as well as after taking into account the social and ethical considerations. Most of the time, management involves surgical incision of the non-functioning penis. Results: In this case report, a child of age 10 years presented with double penis since childhood. The child was evaluated clinically and radiologically for any other associated abnormalities, and his non-functional urethra was surgically removed. Level of evidence: Level IV

A fetus excised from the small intestinal mesentery of a neonate (fetus in fetu): a case report

Background Fetus in fetu is a rare congenital anomaly. Its incidence is 1/500,000 births. So, pediatric surgeons may encounter this pathology only once or twice during their professional careers. Case presentation We present a rare case of a fetus extracted from the small intestinal mesentery of a healthy neonate who was explored after delivery. The extracted fetal mass included a fully differentiated skull and limbs with a celomic cavity. The fetal mass was supplied by a main feeding vessel branching from the superior mesenteric artery. Conclusion Fetus in fetu, despite being a rare variant, must be kept in mind when dealing with a neonatal abdominal mass showing bony parts on radiography.

Opening a dacryocystorhinostomy into the opposite nasal cavity in a case of hemiarhinia

Heminasal agenesis is an exceedingly rare congenital anomaly which is frequently associated with disorders of eye, lacrimal drainage system and face. At times, a proboscis may also be noted with this condition. Herein, we present a case of a 13-year-old boy who presented to us with heminasal agenesis with concomitant microphthalmos, leucomatous corneal opacity, blepharoptosis, dacryocystocoele and maxillary hypoplasia. The child underwent a modified transeptal external dacryocystorhinostomy with placement of a lacrimal stent. There was significant improvement of epiphora and discharged following surgery. Heminasal aplasia with dacryocystocoele is surgical challenge; however, a well thought out surgical approach can yield satisfactory outcomes.

General principles governing record taking in patients with cleft lip and palate

(WHO meetings on International Collaborative Research on Craniofacial Anomalies).One of the most common congenital anomaly we come across is the Cleft Lip and palate where affected children suffer from range of functional as well as aesthetic problems. Cleft lip and palate is a multifunctional disease associated with environmental factors. Management of cleft is a complex procedure and demands co-operation among experts from different fields. Clinical treatment procedure extends from beginning of birth, to achieving skeletal maturity effectively.

Genetic and imaging study of a case with multiple malformations: limb body wall complex

The Limb-Wall Complex is a rare and sporadic congenital anomaly characterized by multiple craniofacial and thoracoabdominal malformations as well as involvement of the spine and lower extremities. The etiology is unknown and the chromosomal study is normal, however, it is related to an alteration in the formation of the umbilical cord (short umbilical cord), abdominal placental insertion and persistence of the extraembryonic coelom. This condition causes intracavitary organs to be exposed and adhered to the placenta and consequently also attached to the mother’s uterus. The diagnosis can be made from the first trimester of gestation with a nuchal translucency ultrasound in order to detect this pathology in time and to be able to offer good genetic counseling to the parents, since the prognosis is not favorable

PERFORATED MECKEL’S DIVERTICULUM IN A YOUNG MALE PATIENT: A CASE REPORT

In this article we report the case of a 26-year-old boy suffering from perforation of Meckel's diverticulum (MD), a rare complication of the most common congenital anomaly of the gastrointestinal tract (1). This congenital condition can remain asymptomatic for a long time and sometimes it can get complicated with diverticulitis, formation of enteroliths, neoplasms and rarely perforation as in this case. A preoperative radiological assessment is of fundamental importance for a correct diagnostic and therapeutic management of the patient. In this article we show the typical tomographic imaging features of this infrequent complication, in order to help radiologists in detecting it.

Rare anomaly of kidney development – L-shaped fusion

Within the framework of the publication, an L‑shaped fusion of the kidneys (horseshoe‑shaped) is considered, referring to the category of asymmetric fusion. The presented clinical case is an extremely rare form of congenital anomaly of renal fusion, demonstrating the difficulty of verifying the correct diagnosis. The article presents the results of a tomographic study, which, in addition to enlargement of the kidneys, recorded signs of dysplasia of the left ureter (stricture) and signs of an arterial vascular bed (aberrant artery of the upper part of the L‑shaped horseshoe).

Risk factors for death in Welsh infants with a congenital anomaly

ObjectivesTo investigate risk factors associated with death of infants with a congenital anomaly in Wales, UK.DesignA population-based cohort study.SettingData from the Welsh Congenital Anomaly Register and Information Service (CARIS) linked to live births and deaths from the Office for National Statistics.PatientsAll live births between 1998 and 2016 with a diagnosis of a congenital anomaly, which was defined as a structural, metabolic, endocrine or genetic defect, as well as rare disease of hereditary origin.Main outcome measuresAdjusted ORs (aORs) were estimated for socio-demographic, maternal, infant and intervention factors associated with death in infancy, using logistic regression for all, isolated, multiple and cardiovascular anomalies.Results30 424 live births affected by congenital anomalies were identified, including 1044 infants who died by the age of 1 year (infant mortality rate: 16.5 per 10 000 live births, case fatality: 3.4%, 30.3% of all infant deaths). Risk factors for infant death were non-white versus white ethnicity (aOR: 2.25; 95% CI: 1.77–2.86); parous versus nulliparous (aOR: 1.24; 95% CI: 1.08–1.41); smoking during pregnancy versus non-smokers/ex-smokers (aOR: 1.20; 95% CI: 1.02–1.40); preterm versus term birth (aOR: 4.38; 95% CI 3.86–4.98); female versus male infants (aOR: 1.28; 95% CI: 1.13–1.46) and the earlier years of the birth cohort (aOR: 0.96; 95% CI: 0.95–0.98 per yearly increase). Infants with a cardiovascular anomaly who received surgery had a lower odds of death than those who did not (aOR: 0.34; 95% CI: 0.15–0.75). Preterm birth was a significant factor for death for all anomalies but the effect of the other characteristics varied according to anomaly group.ConclusionsNearly a third of all infant deaths had an associated anomaly. Improving access to prenatal care, smoking cessation advice, optimising care for preterm infants and surgery may help lower the risk of infant death.

The Voice of Parents of Children With a Congenital Anomaly – A EUROlinkCAT Study

EUROlinkCAT aims to investigate the health and educational outcomes of children with congenital anomalies for the first 10 years of their lives. We also aim to facilitate the development of a more reciprocal relationship between families with children with congenital anomalies, health and social care professionals, and researchers by conducting focus groups. The aim of the focus groups and parent interviews was to investigate parental experiences of having a child with a heart defect requiring surgery, cleft lip, spina bifida or Down Syndrome and to identify their research priorities. In total, seven interviews with 12 parents and eight focus groups with 58 parents and two caregivers were conducted in four European countries. We found that parents request more positive information with a focus on quality of life and what the children can achieve rather than solely on the negative aspects and limitations of the congenital anomaly. Some parents also highlighted discrepancies between the family's need for support and the lack of support received from the local authority. Finally, it was challenging for the parents to address specific research priorities. Future research should therefore focus on the potential of a child with a congenital anomaly.