A newly recognized syndrome of severe growth deficiency,microcephaly, intellectual disability,and characteristic facial features |
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| Affiliation: | 1. Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel;2. Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel;3. Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel;4. Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel;5. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel;6. Division of Inborn Metabolic Diseases, University Children''s Hospital, Im Neuenheimer Feld, Heidelberg, Germany;1. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan;2. Department of Orthopedic Surgery, National Rehabilitation Center for Children with Disabilities, Japan;3. Department of Orthopedic Surgery, Tokyo Metropolitan Kita Medical & Rehabilitation Center for the Handicapped, Japan;4. Center for Medical Genetics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, 160-8582, Tokyo, Japan;1. Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands;2. Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands;3. Department of Dermatology, Academic Medical Center, Amsterdam, The Netherlands;4. Department of Plastic and Reconstructive Surgery, Academic Medical Center, Amsterdam, The Netherlands;1. Department of Pediatrics, Harbor-UCLA Medical Center and Los Angeles Biomedical Research Institute, Torrance, CA;2. Santa Clara Valley Medical Center, San Jose, CA;3. Children''s Hospital Los Angeles–University of Southern California, Los Angeles, CA;4. California Department of Health Care Services, Sacramento, CA;1. Department of Medical Genetics, Dr Faruk Sükan Maternity and Pediatric Hospital, Konya, Turkey;2. Elvankent Ayyıldız Family Health Center, Ankara, Turkey;3. Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK;1. Department of Radiation Oncology, Center for Optical Diagnostics and Therapy, Postgraduate School Molecular Medicine, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands;2. Department of Otolaryngology – Head and Neck Surgery, Erasmus MC, Rotterdam, The Netherlands |
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| Abstract: | 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. |
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| Keywords: | Microcephaly Small stature Intellectual disability Low cholesterol |
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