A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features

作者：Vinkler Chana^*; Leshinsky Silver Esther; Michelson Marina; Haas Dorothea; Lerman Sagie Tally; Lev Dorit

来源：European Journal of Medical Genetics, 2014, 57(6): 288-292.

DOI：10.1016/j.ejmg.2014.03.010

• Microcephaly
• Small stature
• Intellectual disability
• Low cholesterol

Genetic syndromes with proportionate severe short stature are rare. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. During infancy and early childhood, the girls had transient hepatosplenomegaly and low blood cholesterol levels that normalized later. A thorough evaluation including metabolic studies, radiological, and genetic investigations were all normal. Cholesterol metabolism and transport were studied and no definitive abnormality was found. No clinical deterioration was observed and no metabolic crises were reported. After due consideration of other known hereditary causes of post-natal severe linear growth retardation, microcephaly, and intellectual disability, we propose that this condition represents a newly recognized autosomal recessive multiple congenital anomaly-intellectual disability syndrome.

• 出版日期2014-6
• 单位河北医科大学