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Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa)
Gerrye Mubungu1,2,3, Guy Lukute4, Prince Makay1,3
1Center for Human Genetics, University of Kinshasa, Kinshasa, Congo.
Insights
This report details the first case of Sotos syndrome in Central Africa, highlighting its unique presentation with both syndrome-specific and ethnic features. The study documents the patient's growth patterns and distinct physical characteristics.
Area of Science:
- Genetics and rare diseases
- Pediatric endocrinology and growth disorders
- Clinical dysmorphology
Background:
- Sotos syndrome is a well-documented overgrowth disorder characterized by excessive childhood growth, macrocephaly, and developmental delays.
- Previous research has primarily focused on Caucasian populations, leaving a gap in understanding Sotos syndrome in diverse ethnic groups.
Observation:
- The first documented case of Sotos syndrome in Central Africa presented with typical features like macrocephaly and developmental delays.
- Distinctive facial features included a long face, hypertelorism, macroglossia, and prominent lips, with malar flushing evolving over time.
- Growth parameters showed rapid acceleration in height and weight after birth, exceeding the 97th percentile by 4 months.
Findings:
- The patient exhibited a combination of Sotos syndrome-specific dysmorphic traits and common facial characteristics of African individuals, such as prominent lips.
- Growth velocity followed a triphasic pattern: rapid early growth, followed by a slower phase, and weight acceleration after the first year.
- The phenotypic description provides valuable data on the presentation of Sotos syndrome in a Central African context.
Implications:
- This case expands the phenotypic spectrum of Sotos syndrome, emphasizing the importance of considering ethnic variations in diagnosis.
- Understanding ethnic-specific contributions to Sotos syndrome presentation is crucial for accurate diagnosis and management in diverse populations.
- Further research is needed to explore the prevalence and specific clinical manifestations of Sotos syndrome across different African ethnicities.
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.
