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软骨毛发发育不全

Cartilage hair hypoplasia.

作者信息

Siggers D C, Burke J B, Morris B, Normand I C, Tanner J M, Williamson D A

出版信息

Postgrad Med J. 1977 Aug;53(622):473-9. doi: 10.1136/pgmj.53.622.473.

DOI:10.1136/pgmj.53.622.473
PMID:917962
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2496722/
Abstract

Six cases of cartilage hair hypoplasia from five kindreds are described. They demonstrate variation in the expression of clinical features such as sparsity of hair, hair calibre, radiological changes, short stature and the extent of the disproportion between sitting height and stature.

摘要

本文描述了来自五个家族的6例软骨毛发发育不全病例。这些病例展示了临床特征表达的差异,如毛发稀疏、毛发粗细、放射学改变、身材矮小以及坐高与身高之间的不成比例程度。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e1f/2496722/9ff8c98505e9/postmedj00272-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e1f/2496722/731ed2db83df/postmedj00272-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e1f/2496722/bdc670a7c6f2/postmedj00272-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e1f/2496722/a267e6e3c3d1/postmedj00272-0057-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e1f/2496722/7cf45040193e/postmedj00272-0057-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e1f/2496722/9ff8c98505e9/postmedj00272-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e1f/2496722/731ed2db83df/postmedj00272-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e1f/2496722/bdc670a7c6f2/postmedj00272-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e1f/2496722/a267e6e3c3d1/postmedj00272-0057-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e1f/2496722/7cf45040193e/postmedj00272-0057-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e1f/2496722/9ff8c98505e9/postmedj00272-0058-a.jpg

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Cartilage hair hypoplasia.软骨毛发发育不全
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引用本文的文献

1
Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.软骨毛发发育不全:特征与骨科表现
J Child Orthop. 2015 Apr;9(2):145-52. doi: 10.1007/s11832-015-0646-z. Epub 2015 Mar 13.
2
Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia.患有软骨毛发发育不全且有贫血病史的患者造血祖细胞体外集落形成存在缺陷。
Eur J Pediatr. 1995 Jan;154(1):30-4. doi: 10.1007/BF01972969.
3
Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients.

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.
2
Association of pancreatic insufficiency and chronic neutropenia in childhood.
Arch Dis Child. 1967 Apr;42(222):147-57. doi: 10.1136/adc.42.222.147.
3
Metaphyseal dysplasia in siblings: a variant of cartilage-hair hypoplasia.同胞中的干骺端发育异常:软骨-毛发发育不全的一种变异型。
Proc R Soc Med. 1972 Aug;65(8):727. doi: 10.1177/003591577206500829.
软骨毛发发育不全的骨骼生长。82例患者的放射学研究。
Pediatr Radiol. 1992;22(6):434-9. doi: 10.1007/BF02013505.
4
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.
5
Metaphyseal chondrodysplasia.干骺端软骨发育异常
Postgrad Med J. 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480.
4
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.
5
Metaphyseal chondrodysplasia.干骺端软骨发育异常
Postgrad Med J. 1977 Aug;53(622):480-7. doi: 10.1136/pgmj.53.622.480.