Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD
Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD
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DOI：
10.1136/jmg.2003.013342
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发表时间：
2004-05-01
影响因子：
4
通讯作者：
Cormier-Daire, V
中科院分区：
文献类型：
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作者：
Borochowitz, ZU;Scheffer, D;Cormier-Daire, V
方法在这个家庭中，5个受影响的人被发现有不成比例的侏儒症相似的临床和放射学特征。患者1（图1和图2）出生于阿拉伯-穆斯林血统的健康父母，他们是堂兄弟姐妹，身高正常（父亲175 cm（第75百分位数）和母亲168 cm（第50百分位数）），在足月妊娠和正常分娩后（出生体重3100 g，出生身长45 cm（-2 SD），头围33 cm）。1年时，她出现四肢短小身材（身高68 cm（-3 SD），体重8 kg（第3百分位数），头围43 cm（-3 SD），臂展71 cm，手掌长5.2 cm（第50百分位数），中指长3.2 cm（第3百分位数））。神经系统检查、精神发育、听力和视力均正常。常规化学、甲状腺功能检查和肾脏超声检查也正常。6年时的再评估显示肢体比例进一步不均衡，腿弯曲，蹒跚步态，宽关节（尤其是膝关节），肘关节伸展受限，漏斗胸和腰椎前凸。在10岁时，她因严重弯曲而接受双侧胫骨近端截骨术。12岁时的检查显示了相同的变化（身高为-4 SD），严重的蹒跚步态和非常明显的下肢弯曲。
METHODSIn this family, five affected individuals were found to have disproportionate dwarfism with similar clinical and radiological features. Patient 1 (figs 1 and 2) was born to healthy parents of Arabic-Muslim origin who are first cousins and of normal stature (father 175 cm (75th centile) and mother 168 cm (50th centile)), after a term pregnancy and normal delivery (birth weight 3100 g, birth length 45 cm (-2 SD), head circumference 33 cm). At 1 year, she had short-limbed short stature (height 68 cm (-3 SD), weight 8 kg (3rd centile), head circumference 43 cm (-3 SD), arm span 71 cm, palm length 5.2 cm (50th centile), middle finger length 3.2 cm (3rd centile)). Neurological examination, psychomotor development, hearing, and visual acuity were otherwise normal. Routine chemistry, thyroid function tests, and renal ultrasounds were normal as well. Re-evaluation at 6 years showed further disproportion of limbs, with bowed legs, waddling gait, wide joints (especially the knees), with limited elbow extension, pectus excavatum, and lumbar lordosis. At age 10 years, she underwent bilateral osteotomy of both proximal tibiae due to severe bowing. Examination at age 12 years showed the same changes (height at− 4 SD), severe waddling gait, and very pronounced bowing of lower limbs.