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马萨尔氏(Marshall’s)综合征是常染色体显性遗传性疾病,其特点是视、听和骨骼异常。它的主要临床表现为:近视、白内障(部分病人有视网膜脱落),鼻梁凹陷,颜面中部发育不良,进行性感觉神经性耳聋,扇椎畸形,柱体增厚,驼背和长骨骨骺端膨大,掌指关劳运动受限。一般智力发正常。这是一种少见的遗传性疾病,迄今文献约报道30例。本文作者发现1例。患儿,女,第2胎第2产,足月顺产,妊娠和分娩无特殊。出生体重4300g,身长58cm。母乳喂养10天。早期发育正常:1
Marshall’s syndrome is an autosomal dominant genetic disease characterized by visual, auditory and skeletal abnormalities. Its main clinical manifestations are: myopia, cataracts (some patients have retinal detachment), depression of the nose, central facial dysplasia, progressive sensory deafness, deformity of the spondylolisthesis, thickening of the cylinder, swelling of the humpback and long bone at the epiphysis, palmar Refers to the limited labor movement. Normal intelligence is normal. This is a rare genetic disease, so far reported about 30 cases of literature. The authors found 1 case. Children, women, the second child of the second production, full-term birth, pregnancy and childbirth no special. Birth weight 4300g, body length 58cm. Breastfeeding for 10 days. Early normal development: 1