Dowling P A, Fleming P, Gorlin R J, King M, Nevin N C, McEntagart M
Department of Public and Child Dental Health, School of Dental Science and Dublin Dental Hospital, Lincoln Place, Dublin 2, Ireland.
Int J Paediatr Dent. 2001 Mar;11(2):131-4. doi: 10.1046/j.1365-263x.2001.00231.x.
Short stature and developmental delay may be observed in many genetic conditions and well-defined syndromes. A 7-year-old girl presented with the non-specific findings of subtle dysmorphism, short stature and developmental delay. Although a genetic syndrome was suspected, a definitive diagnosis was not made until the dental findings of KBG syndrome were recognised, namely grossly enlarged maxillary permanent central incisors and hypodontia.
身材矮小和发育迟缓可能在许多遗传疾病和明确的综合征中出现。一名7岁女孩表现出轻微畸形、身材矮小和发育迟缓等非特异性症状。尽管怀疑是遗传综合征,但直到认识到KBG综合征的牙科表现,即上颌恒中切牙明显增大和牙齿发育不全,才做出明确诊断。