Østergaard John R, Graakjær Jesper, Brandt Carsten, Birkebæk Niels H
Centre for Rare Diseases, Department of Paediatrics A, Aarhus University Hospital, Skejby. Brendstrupsgaardvej 100, DK-8200 Aarhus N, Denmark.
Eur J Med Genet. 2012 Jan;55(1):22-6. doi: 10.1016/j.ejmg.2011.09.004. Epub 2011 Oct 24.
Recently, a 17p13.3 microdeletion syndrome characterized by significant postnatal growth retardation, mild to moderate mental retardation and facial dysmorphic manifestations has been delineated to a small region within the area of the Miller-Dieker syndrome critical region. We report a boy with a 284 kb deletion within the Miller-Dieker critical region including CRK, but not involving YWHAE and TUSC5. He showed mental retardation and had significant postnatal growth retardation. Further, he had slight facial and limb abnormalities. Cerebral MRI, including visualization of the pituitary gland, disclosed no abnormalities. The findings in the present case indicate, that CRK may also be involved in the facial phenotype of the 17p13.3 microdeletion syndrome, and that CRK, and not YWHAE, seems to be involved in limb malformations. The effect of growth hormone treatment in CRK-deficient children is discussed.
最近，一种以显著的出生后生长发育迟缓、轻度至中度智力障碍和面部畸形表现为特征的17p13.3微缺失综合征已被定位到Miller-Dieker综合征关键区域内的一个小区域。我们报告了一名男孩，其在Miller-Dieker关键区域内有一个284 kb的缺失，包括CRK，但不涉及YWHAE和TUSC5。他表现出智力障碍且有显著的出生后生长发育迟缓。此外，他有轻微的面部和肢体异常。包括垂体可视化在内的脑部MRI检查未发现异常。本病例的研究结果表明，CRK可能也参与了17p13.3微缺失综合征的面部表型，并且似乎是CRK而非YWHAE参与了肢体畸形。文中还讨论了生长激素治疗对CRK缺陷儿童的影响。
