Eritish Journal of oral and Maxillofacial Surgery Volume 32 Number l,2,3.1994B Castling,M Telfer,B S Avery:compllication of trachesotomy in major head and neck cancer surgery;a retrospective study of 60 consecutive ca...Eritish Journal of oral and Maxillofacial Surgery Volume 32 Number l,2,3.1994B Castling,M Telfer,B S Avery:compllication of trachesotomy in major head and neck cancer surgery;a retrospective study of 60 consecutive cases严重头颈癌手术气管切开术的并发症;60例连续病例的回顾性研究L k cheung,V Samman E hui,H Tideman:The 3-dimensional stability of maxillary osteotomies in cheftpalate patients with residual alveolar展开更多
We present a 7-week-old male infant with pseudoscleroderma as a primary manifestation of the Hutchinson-Gilford syndrome of premature aging. He had suffered intra-uterine growth retardation; micrognathism and a cleft ...We present a 7-week-old male infant with pseudoscleroderma as a primary manifestation of the Hutchinson-Gilford syndrome of premature aging. He had suffered intra-uterine growth retardation; micrognathism and a cleft palate were evident at birth. He presented with feeding difficulties and severe, diffuse scleroderma-like lesions, a faint peri-oral cyanosis and prominent scalp veins. With time, special facial features became more and more apparent: frontal bossing, prominent eyes, thin and fine nose and lips, microstomia, low-set ears and occipito-parietal alopecia. Histopathology of the skin showed an increased density and thickness of collagen in the dermis and hypodermis. Within the 1st year of life, typical skeletal characteristics were observed. The diagnosis of Hutchinson-Gilford syndrome was confirmed by analysis of the lamin A gene, revealing a heterozygous c.1824C > T (G608G) mutation. Conclusion:Hutchinson-Gilford syndrome is an extremely rare disorder of which the full clinical spectrum becomes evident with time. Sclerodermatous changes in the infant can be the first manifestation.展开更多
文摘Eritish Journal of oral and Maxillofacial Surgery Volume 32 Number l,2,3.1994B Castling,M Telfer,B S Avery:compllication of trachesotomy in major head and neck cancer surgery;a retrospective study of 60 consecutive cases严重头颈癌手术气管切开术的并发症;60例连续病例的回顾性研究L k cheung,V Samman E hui,H Tideman:The 3-dimensional stability of maxillary osteotomies in cheftpalate patients with residual alveolar
文摘We present a 7-week-old male infant with pseudoscleroderma as a primary manifestation of the Hutchinson-Gilford syndrome of premature aging. He had suffered intra-uterine growth retardation; micrognathism and a cleft palate were evident at birth. He presented with feeding difficulties and severe, diffuse scleroderma-like lesions, a faint peri-oral cyanosis and prominent scalp veins. With time, special facial features became more and more apparent: frontal bossing, prominent eyes, thin and fine nose and lips, microstomia, low-set ears and occipito-parietal alopecia. Histopathology of the skin showed an increased density and thickness of collagen in the dermis and hypodermis. Within the 1st year of life, typical skeletal characteristics were observed. The diagnosis of Hutchinson-Gilford syndrome was confirmed by analysis of the lamin A gene, revealing a heterozygous c.1824C > T (G608G) mutation. Conclusion:Hutchinson-Gilford syndrome is an extremely rare disorder of which the full clinical spectrum becomes evident with time. Sclerodermatous changes in the infant can be the first manifestation.