Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa)
- 1 July 2020
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 182 (7), 1572-1575
- https://doi.org/10.1002/ajmg.a.61617
Abstract
Sotos syndrome is a widely studied overgrowth syndrome. Clinical presentation includes excessive growth during childhood, macrocephaly, learning difficulties of various degrees, variable minor features, and distinctive facial gestalt. We provide in this report the first phenotypic and growth description of Sotos syndrome in a patient from Central Africa. At 6 month the patient exhibited axial hypotonia, delayed speech development and dysmorphism including long face, sparse eyebrows, hypertelorism, malar hypoplasia and dark flushing, short philtrum, depressed nasal root, anteverted nares, thick upper and lower lip vermilions, macroglossia, prominent forehead, large and peculiar ears, wide intermammillary distance, deep palmar creases, dysplastic finger nails, partial syndactyly of toes, broad, and overlapping hallux. At 19 months, malar flushing became reddish and a retraction of the middle of the lower lip was observed, resembling a bifid lip. He retained the same clinical features at 31 months. Head circumference, weight, and height where within normal ranges at birth but became all above 97th centiles at 4 months. The height velocity evolved in three phases starting with a very fast growth from birth to 6 months (54 cm/year), then a fast phase from 6 to 16 months (18 cm/year) and a slow phase from 16 to 31 months (4.8 cm/year). Conversely, the patient exhibited an acceleration of weight after the first year of life. Our patient exhibited very prominent lips and deep philtrum, which are common facial traits in African individuals. The current report shows an admixture of ethnic-specific features with syndrome-specific features in an African patient.Keywords
This publication has 13 references indexed in Scilit:
- SETD2andDNMT3Ascreen in the Sotos-like syndrome French cohortJournal of Medical Genetics, 2016
- Lactobionic acid reduces body weight gain in diet-induced obese rats by targeted inhibition of galectin-1Biochemical and Biophysical Research Communications, 2015
- Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic featuresEuropean Journal of Paediatric Neurology, 2013
- De novo 5q35.5 duplication with clinical presentation of Sotos syndromeAmerican Journal of Medical Genetics Part A, 2011
- Sotos syndromeMedical Journal Armed Forces India, 2011
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesAmerican Journal of Human Genetics, 2010
- Sotos syndromeOrphanet Journal of Rare Diseases, 2007
- Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 AberrationsAmerican Journal of Human Genetics, 2005
- Molecular Basis of Sotos SyndromeHormone Research in Paediatrics, 2004
- Case Report: Dominantly Inherited Childhood Gigantism Resembling Sotos’ SyndromeThe American Journal of the Medical Sciences, 1989