Metaphyseal dysplasia in siblings: a variant of cartilage-hair hypoplasia.
作者信息
Savage M O
出版信息
Proc R Soc Med. 1972 Aug;65(8):727. doi: 10.1177/003591577206500829.
Abstract
摘要
相似文献
1
Metaphyseal dysplasia in siblings: a variant of cartilage-hair hypoplasia.
Proc R Soc Med. 1972 Aug;65(8):727. doi: 10.1177/003591577206500829.
2
[Radiologic changes in metaphyseal chondrodystrophy of the McKusick type (cartilage-hair hypoplasia)].[麦库西克型干骺端软骨发育不良（软骨毛发发育不全）的放射学改变]
Monatsschr Kinderheilkd. 1984 Jul;132(7):550-3.
3
The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings.
Helv Paediatr Acta. 1983 Aug;38(3):267-80.
4
Metaphyseal dysplasia, type Schmid.
Prog Clin Biol Res. 1982;104:103-10.
5
Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia.
J Med Genet. 1990 Nov;27(11):693-6. doi: 10.1136/jmg.27.11.693.
6
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.RMRP功能损害的类型和程度可预测软骨毛发发育不全-发育不全谱系中的表型。
Am J Hum Genet. 2007 Sep;81(3):519-29. doi: 10.1086/521034. Epub 2007 Aug 6.
7
[Diastrophic dwarfism or "metaphyseal dysostosis"].
Ann Pediatr (Paris). 1970 Dec 2;17(12):876-81.
8
[Metaphyseal dysostosis and hypoplasia of hair: cartilage-hair-hypoplasia. Contribution on statistical coverage of hair morphology].
Helv Paediatr Acta. 1972 Jul;27(3):241-51.
9
A new skeletal dysplasia syndrome with dwarfism, craniofacial anomalies, and unique radiographic findings.一种新的骨骼发育不良综合征，伴有侏儒症、颅面畸形和独特的影像学表现。
Am J Med Genet. 1986 Mar;23(3):751-7. doi: 10.1002/ajmg.1320230303.
10
Congenital familial dwarfism with cephalo-skeletal dysplasia.
Ann Radiol (Paris). 1976 Jan-Feb;19(1):187-92.
引用本文的文献
1
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.软骨毛发发育不全——108例芬兰患者的临床表现
Eur J Pediatr. 1993 Mar;152(3):211-7. doi: 10.1007/BF01956147.
2
Cartilage hair hypoplasia.软骨毛发发育不全
Arch Dis Child. 1973 Nov;48(11):918-21. doi: 10.1136/adc.48.11.918.
3
Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.芬兰的软骨毛发发育不全症：107例患者的流行病学和遗传学特征
J Med Genet. 1992 Sep;29(9):652-5. doi: 10.1136/jmg.29.9.652.
4
Cartilage hair hypoplasia.软骨毛发发育不全
Postgrad Med J. 1977 Aug;53(622):473-9. doi: 10.1136/pgmj.53.622.473.
本文引用的文献
1
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.阿米什人中的侏儒症。II. 软骨毛发发育不全。
Bull Johns Hopkins Hosp. 1965 May;116:285-326.
Zotero 插件