Department of Pediatrics and Neonatology, Dr Ram Manohar Lohia Hospital, New Delhi, India.
Indian Pediatr. 2010 Nov;47(11):973-5. doi: 10.1007/s13312-010-0151-x.
Dyggve Melchior Clausen syndrome is a rare autosomal recessive disorder, characterized by progressive spondylo epi metaphyseal dysplasia associated with mental retardation. The clinical and radiological findings resembles Morquio disease at the onset of condition, which may hinder its diagnosis. Two siblings with chatacteristic clinical (progressive postnatal dwarfism and mental retardation) and radiological features (irregular lace-like appearance of the iliac crests) are reported.
迪格维·梅尔基奥尔·克劳森综合征是一种罕见的常染色体隐性遗传病，其特征为进行性脊柱骨骺干骺发育不良伴智力迟钝。疾病初发时，其临床表现和影像学表现类似于黏多糖贮积症 IV 型，这可能会阻碍其诊断。本文报道了两例具有特征性临床表现（进行性出生后侏儒和智力迟钝）和影像学特征（髂嵴不规则花边样外观）的同胞病例。
