Riyaz Najeeba, Riyaz A, Chandran Rajesh, Rakesh S V
Departments of Dermatology, Medical College, Calicut, Kerala, India.
Indian J Dermatol Venereol Leprol. 2005 Jul-Aug;71(4):279-81. doi: 10.4103/0378-6323.16624.
A 7-year-old girl born of non-consanguineous marriage was evaluated for facial dysmorphism. She had multiple skeletal anomalies like hypoplasia of the right mandible, narrow nasal bridge with broad tip and unilateral notching of the right ala nasi, concomitant squint and low set ears. She also had generalized hypopigmented, atrophic linear macules, multiple papillomas, fat herniations, umbilical hernia, hypoplastic nails, cicatricial alopecia, mild mental retardation, 'lobster-claw' hand and osteopathia striata of long bones, pointing to a diagnosis of Goltz syndrome. The unusual features noted were absence of the left first rib and aortic regurgitation.
一名7岁非近亲结婚出生的女孩因面部畸形接受评估。她有多种骨骼异常，如右下颌骨发育不全、鼻梁狭窄且鼻尖宽大、右侧鼻翼单侧切迹、伴有斜视和低位耳。她还患有全身性色素减退、萎缩性线性斑疹、多发性乳头状瘤、脂肪疝、脐疝、指甲发育不全、瘢痕性脱发、轻度智力发育迟缓、“龙虾爪”手和长骨条纹状骨病，提示诊断为戈尔茨综合征。所观察到的不寻常特征为左第一肋骨缺失和主动脉反流。
