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Branching out: Specialties and subspecialties in medical genetics
Published in Peter S. Harper, The Evolution of Medical Genetics, 2019
As noted at the beginning of this section, dysmorphology, despite its rapid development, has not become separated from medical genetics overall, and this has quite possibly contributed to its continued vitality by allowing cross-fertilisation with human molecular genetics and with new genomic developments, quite apart from a shared need for genetic counselling and other core components of medical genetics. The fact that most regional medical genetics centres now contain at least four or five senior medical staff, together with the need to provide an all-round training for those entering the field, means that one or more individuals with particular expertise in clinical dysmorphology are now available in all centres to provide a service and to draw on the wide range of patients who can contribute to the still-growing understanding of this field.
Dysmorphology and genetic syndromes
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Confusion of terminology abounds in the study of congenital malformations. The very term dysmorphology is disliked by some but has the advantage of clearly identifying the field as the study of disordered development, without specifying the causes or limiting the subject to genetic influences. In general, the field covers what are broadly known as congenital abnormalities or birth defects – abnormalities that are apparent at or before the time of birth and where there are recognisable structural anomalies. Thus, most inborn errors of metabolism do not fall into this area, except for those few where visible defects are present at birth, such as maternal phenylketonuria and some of the peroxisomal defects. Likewise, many other progressive Mendelian disorders are excluded, such as Duchenne muscular dystrophy and Tay-Sachs disease, even though histological or biochemical study may show clear changes before birth.
Prader–Willi Syndrome: An Example of Genomic Imprinting
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Subtle physical characteristics may be recognized by only clinical geneticists trained in dysmorphology; however, a greater awareness by pediatricians, other physicians, and health care providers now exists. Because of better recognition and awareness of PWS by the medical community during the past 10 years and of more accurate and reliable genetic testing, the diagnosis is made earlier than in the past and extensive diagnostic procedures are generally avoided. Many children with PWS were not diagnosed in the past until rapid weight gain was evident leading to obesity and until the presence of specific learning/behavioral problems. For example, the average age of diagnosis for patients with PWS was >6 years of age reported in the mid 1980s (13).
Multifaceted case management during pregnancy is associated with better child outcomes and less fetal alcohol syndrome
Published in Annals of Medicine, 2023
Philip A. May, Anna-Susan Marais, Wendy O. Kalberg, Marlene M. de Vries, David Buckley, Julie M. Hasken, Cudore L. Snell, Ronel Barnard Röhrs, Dixie M. Hedrick, Heidre Bezuidenhout, Lise Anthonissen, Erine Bröcker, Luther K. Robinson, Melanie A. Manning, H. Eugene Hoyme, Soraya Seedat, Charles D. H. Parry
This study has several strengths. First, this is the first study, to our knowledge, that has assessed, in detail, the effectiveness of the prenatal intervention to prevent FASD by employing dysmorphology examinations, neurobehavioral testing, and a formal diagnostic evaluation of FASD in the offspring of women in MCM. Direct child outcomes were assessed to evaluate the efficacy of MCM and enhance normal development in children with PAE. Second, the children’s growth and development were followed over time for both groups of at risk, heavy drinking women. There are few FASD prevention studies with controls that assessed child developmental indicators over time [50,81–83,96]. Third, the women in the two groups were well matched on both proximal risk factors (alcohol use in a population that has little co-morbid use of other drugs) and distal risk factors at intake. Fourth, we have done our ethical best and provided a novel intervention, nested and blinded, within a comparative study of the development of children with FASD and controls, to assist as many of those who were the most hazardous drinkers as we could. Obviously, the lack of random assignment causes problems with interpretation of causality, but it was a proper and appropriate intervention for an applied, on the ground public health study. It was a realistic, real world attempt to answer two major priorities for FASD intervention research raised by Hankin et al. [97]: generate a program that reduces barriers to care and determine which programs might be most successful.
Genetic and clinical variations of developmental epileptic encephalopathies
Published in Neurological Research, 2023
Gül Demet Kaya Özçora, Elif Söbü, Uğur Gümüş
Developmental and epileptic encephalopathy type 7 (DEE 7) was the most common type in our study group. DEE 7 is frequently characterised by neonatal-onset refractory seizures, delayed neurodevelopment and persistent neurologic deficits. Seizures resolve by 3–4 years of age with improvement in EEG abnormalities. The severity of the disease may vary within the family. In our study, all patients with DEE 7 had neonatal seizures. The initial EEGs of patients 6 and 9 revealed a burst-suppression pattern that could subsequently progress to multifocal epileptiform activity (MFED), and were consistent with a clinical diagnosis of Ohtahara syndrome. Patients 6 and 9 were exitus, patient 7 was followed because of refractory epilepsy and patient 8 was developing close to normal. Dysmorphology was also present in patients 6 and 9. The authors note that the phenotypic variability could be due to the interplay of pathogenic mutations, modifying genes and more subtle environmental factors. In children with self-limiting neonatal epilepsy due to a pathogenic KCNQ2 variant, the flow of brain potassium ions is disturbed but to a lesser extent than in children with KCNQ2 developmental and epileptic encephalopathy. This difference possibly explains why these children have less severe disease than children with KCNQ2 developmental and epileptic encephalopathy [19–22]. In our study, the form with the most severe phenotype and the most resistant seizures was seen in DEE 7 and half of these patients died. Patients 6, 7 and 9 had de-novo mutations and patient 8 had a familial mutation and mild phenotypic features.
Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report
Published in Hearing, Balance and Communication, 2020
Flavio Faletra, Anna Morgan, Sara Ghiselli, Flora Maria Murru, Giorgia Girotto
We describe the case of a 7-year-old child with healthy and normal hearing parents, suffering from apparent non-syndromic HL, diagnosed during the fourth year of life, with a consequent language delay. Pure tone audiometry evaluation showed a bilateral, asymmetric, and moderate to severe sensorineural HL with a medium and high frequency drop threshold profile (Figure 1(A)). Associated conductive hearing impairment was excluded thanks to bone conduction thresholds (in complete agreement with the air conduction thresholds) and tympanometry (patient presents with type A tympanogram). Clinical examination and clinical history were negative for the presence of vestibular dysfunction. A careful dysmorphology assessment was performed, revealing the absence of any significant anomalies. Besides, abdominal ultrasound and ophthalmological examinations were also normal. On the contrary, the Magnetic Resonance Imaging (MRI) scan showed the following brain abnormalities: (1) foci of bilateral subependymal heterotopia, (2) bilateral large heterotopia in the temporal horns, (3) polymicrogyria, (4) nodular alteration of 18 mm in the left cerebellar hemisphere suggesting a possible cerebellar gangliocytoma (Figure 1(C,D)). Considering this clinical picture, the proband and the two parents underwent a genetic analysis through SNP arrays followed by Whole Exome Sequencing (WES).