Intracerebral Calcifications Associated with Failure to Thrive and Macular Degeneration in an Adolescent: A Case Report.

Background: The clinical picture of intracerebral calcification is so varied that it constitutes an essential element of a wide range of clinical syndromes of variable expression that continue to be described. In this article, we discuss the diagnostic possibilities of basal ganglia calcification considering the association of failure to thrive and macular degeneration in our patient.

Case: A 17-year-old male patient of Congolese origin consulted us for a pyramidal syndrome consisting of upper limb tremors during mobilization and dysgraphia.

Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects.

Background: Computer-aided software such as the facial image diagnostic aid (FIDA) and Face2Gene has been developed to perform pattern recognition of facial features with promising clinical results. The aim of this pilot study was to test Face2Gene's recognition performance on Bantu Congolese subjects with Fragile X syndrome (FXS) as compared to Congolese subjects with intellectual disability but without FXS (non-FXS).

Method: Frontal facial photograph from 156 participants (14 patients with FXS and 142 controls) predominantly young-adults to adults, median age 18.

Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population-specific measurements.

The evaluation of dysmorphism is often subjective because many continuous traits are not easily measured or lack normal values. Because many common morphologic profiles vary between populations, population-specific reference ranges of relevant traits are needed. We aim to evaluate the objective assessment of facial dysmorphism in 553 Congolese newborns based on facial measurements.

Deep venous thrombosis and acute pericarditis associated with severe acute respiratory syndrome coronavirus 2 infection in a Congolese infant with sickle cell disease: a case report.

Background: Since the beginning of the pandemic, no severe pediatric coronavirus disease 2019 cases have been described in Congo.

Case: We studied a 3-month-old male child of Congolese origin who was admitted to the pediatric department with 7-day history of fever, unilateral lower leg swelling, and dyspnea. There was no known history of contact with a coronavirus disease 2019 patient, and all the family members were asymptomatic.

Predictive Model for the Risk of Severe Acute Malnutrition in Children.

Background: The nutritional status is the best indicator of the well-being of the child. Inadequate feeding practices are the main factors that affect physical growth and mental development. The aim of this study was to develop a predictive score of severe acute malnutrition (SAM) in children under 5 years of age.

Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo.

Screening for fragile X syndrome (FXS) is essential in children with developmental delay or intellectual disability (ID). In addition, using clinical screening checklists remains of high interest in resource-limited settings. We aimed to gain insight into the prevalence of FXS and the distribution of CGG alleles and to evaluate the usefulness of three checklists in specialized institutions in Kinshasa, DR Congo.

Fragile X checklists: A meta-analysis and development of a simplified universal clinical checklist.

Background: Clinical checklists available have been developed to assess the risk of a positive Fragile X syndrome but they include relatively small sample sizes. Therefore, we carried out a meta-analysis that included statistical pooling of study results to obtain accurate figures on the prevalence of clinical predictors of Fragile X syndrome among patients with intellectual disability, thereby helping health professionals to improve their referrals for Fragile X testing.

Methods: All published studies consisting of cytogenetic and/or molecular screening for fragile X syndrome among patients with intellectual disability, were eligible for the meta-analysis.

Sacrococcygeal teratoma in a female newborn with clinical features of trisomy 13: a case report from Central Africa.

Introduction: The objective of this report is to describe the first patient presenting clinical features of trisomy 13 in association with a sacrococcygeal teratoma.

Case Presentation: We present the case of a Congolese female infant born with bilateral cleft lip and palate, hypotelorism, microcephaly, and capillary hemangioma on her face. She presented with a large sacrococcygeal mass (15.

Mirror-image gastroschisis in monochorionic female twins.

We report a case of "mirror-image" gastroschisis in female monochorionic twins. One of the twins presents a right-sided gastroschisis, the other a left-sided gastroschisis. Both twins have anteriorly placed anus and sacral dimple.

Greenberg Skeletal Dysplasia: first reported case in the Democratic Republic of Congo.

We describe the first Congolese case of Greenberg Skeletal Dysplasia. Were noted at birth a congenital hydrops, a chondrodystrophy, a severe hypoplastic face as well as an ulnar (postaxial) hexadactyly on all four limbs.