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Your search keyword '"S. Mbuyi Musanzayi"' showing total 3 results
Start Over Author "S. Mbuyi Musanzayi" Topic craniofacial abnormalities
3 results on '"S. Mbuyi Musanzayi"'

1. Agnathia otocephaly: A case from the Katanga Copperbelt.

Author

Kayembe-Kitenge T, Manyong'a Kadiamba V, de Luca C, Musa Obadia P, Kasamba Ilunga E, Mbuyi-Musanzayi S, Nawrot T, Lubaba Nkulu CB, Nemery B, and Devriendt K

Subjects
Child, Democratic Republic of the Congo, Female, Homeodomain Proteins, Humans, Infant, Infant, Newborn, Zambia, Craniofacial Abnormalities chemically induced, Craniofacial Abnormalities genetics, Jaw Abnormalities
Abstract

Background: Agnathia otocephaly is a rare craniofacial malformation complex characterised by absent/hypoplastic mandible, abnormally positioned ears meeting at level of neck. Besides mutations in two genes, PRRX1 and OTX2, a teratogenic cause has been suggested. A higher risk of congenital malformations has been associated with paternal work in mining in the Democratic Republic of the Congo's part of the Copperbelt., Case: We studied a female neonate with a clinical diagnosis of agnathia otocephaly, stillborn in Lubumbashi in 2019. The child's father had been working as an artisanal mineworker at the time of conception., Results: Genetic analysis did not reveal a causal mutation. The concentrations of cobalt, arsenic cadmium, and uranium in cord blood of the infant were much higher than those of normal neonates from a previous study., Conclusion: In the absence of identified genetic causes, we hypothesize this case of agnathia otocephaly was related to an exogenous cause, possibly the father's mining-related job., (© 2020 Wiley Periodicals LLC.)

Published
2020
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2. Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Author

Lumaka A, Cosemans N, Lulebo Mampasi A, Mubungu G, Mvuama N, Lubala T, Mbuyi-Musanzayi S, Breckpot J, Holvoet M, de Ravel T, Van Buggenhout G, Peeters H, Donnai D, Mutesa L, Verloes A, Lukusa Tshilobo P, and Devriendt K

Subjects
Abnormalities, Multiple epidemiology, Abnormalities, Multiple physiopathology, Adolescent, Adult, Black People, Child, Child, Preschool, Craniofacial Abnormalities epidemiology, Craniofacial Abnormalities physiopathology, Down Syndrome epidemiology, Down Syndrome physiopathology, Face diagnostic imaging, Face physiopathology, Female, Humans, Infant, Intellectual Disability epidemiology, Intellectual Disability physiopathology, Male, Muscular Atrophy epidemiology, Muscular Atrophy physiopathology, Musculoskeletal Abnormalities diagnosis, Musculoskeletal Abnormalities epidemiology, Musculoskeletal Abnormalities physiopathology, White People, Young Adult, Abnormalities, Multiple diagnosis, Craniofacial Abnormalities diagnosis, Down Syndrome diagnosis, Image Processing, Computer-Assisted, Intellectual Disability diagnosis, Muscular Atrophy diagnosis
Abstract

The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced clinicians (five from Africa and five from Europe) rated gestalt in 127 African non-Down Syndrome (non-DS) patients using either the score 2 for 'clearly dysmorphic', 0 for 'clearly non dysmorphic' or 1 for 'uncertain'. The inter-rater agreement was determined using kappa coefficient. There was only fair agreement between African and European raters (kappa-coefficient = 0.29). Second, we applied the FDNA Face2Gene solution to assess Down Syndrome (DS) faces. Initially, Face2Gene showed a better recognition rate for DS in Caucasian (80%) compared to African (36.8%). We trained the Face2Gene with a set of African DS and non-DS photographs. Interestingly, the recognition in African increased to 94.7%. Thus, training improved the sensitivity of Face2Gene. Our data suggest that human based evaluation is influenced by ethnic background of the evaluator. In addition, computer based evaluation indicates that the ethnic of the patient also influences the evaluation and that training may increase the detection specificity for a particular ethnic., (© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Published
2017
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3. Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

Author

A, Lumaka, N, Cosemans, A, Lulebo Mampasi, G, Mubungu, N, Mvuama, T, Lubala, S, Mbuyi-Musanzayi, J, Breckpot, M, Holvoet, T, de Ravel, G, Van Buggenhout, H, Peeters, D, Donnai, L, Mutesa, A, Verloes, P, Lukusa Tshilobo, and K, Devriendt

Subjects
Adult, Male, Adolescent, Black People, Infant, White People, Musculoskeletal Abnormalities, Craniofacial Abnormalities, Muscular Atrophy, Young Adult, Child, Preschool, Face, Intellectual Disability, Image Processing, Computer-Assisted, Humans, Abnormalities, Multiple, Female, Down Syndrome, Child
Abstract

The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced clinicians (five from Africa and five from Europe) rated gestalt in 127 African non-Down Syndrome (non-DS) patients using either the score 2 for 'clearly dysmorphic', 0 for 'clearly non dysmorphic' or 1 for 'uncertain'. The inter-rater agreement was determined using kappa coefficient. There was only fair agreement between African and European raters (kappa-coefficient = 0.29). Second, we applied the FDNA Face2Gene solution to assess Down Syndrome (DS) faces. Initially, Face2Gene showed a better recognition rate for DS in Caucasian (80%) compared to African (36.8%). We trained the Face2Gene with a set of African DS and non-DS photographs. Interestingly, the recognition in African increased to 94.7%. Thus, training improved the sensitivity of Face2Gene. Our data suggest that human based evaluation is influenced by ethnic background of the evaluator. In addition, computer based evaluation indicates that the ethnic of the patient also influences the evaluation and that training may increase the detection specificity for a particular ethnic.

Published
2016

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