Center for Human Genetics, University of Kinshasa, Kinshasa, Congo.
Institut National de Recherche Biomédicale (INRB), Kinshasa, Congo.
Am J Med Genet A. 2020 Jul;182(7):1572-1575. doi: 10.1002/ajmg.a.61617. Epub 2020 May 14.
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.
Sotos 综合征是一种广泛研究的过度生长综合征。临床表现包括儿童期过度生长、大头畸形、不同程度的学习困难、可变的轻微特征和独特的面部整体特征。我们在此报告中首次描述了一名来自中非的 Sotos 综合征患者的表型和生长情况。在 6 个月时，患者表现出轴向张力减退、言语发育迟缓以及包括长脸、稀疏眉毛、远视、颧骨发育不良和暗红斑、短人中、凹陷的鼻根、前鼻孔、厚上唇和下唇红唇、巨舌、突出的额头、大而奇特的耳朵、宽的乳晕间距离、深掌纹、指甲发育不良、部分脚趾并指、宽而重叠的大脚趾。在 19 个月时，颧骨红斑变得更红，并观察到下唇中部回缩，类似于唇裂。他在 31 个月时仍保留相同的临床特征。头围、体重和身高在出生时均处于正常范围内，但在 4 个月时均超过第 97 百分位数。身高增长速度分三个阶段，从出生到 6 个月（54cm/年）非常快，然后从 6 到 16 个月（18cm/年）快速，从 16 到 31 个月（4.8cm/年）缓慢。相反，患者在生命的第一年之后体重增长加速。我们的患者表现出非常突出的嘴唇和深人中，这是非洲人常见的面部特征。本报告显示了一名非洲患者的种族特异性特征与综合征特异性特征的混合。
