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Otopalatodigital syndrome type II.

作者信息

Holder S E, Winter R M

机构信息

Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London.

出版信息

J Med Genet. 1993 Apr;30(4):310-3. doi: 10.1136/jmg.30.4.310.

DOI:10.1136/jmg.30.4.310
PMID:8487277
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016340/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/730d412ec3dd/jmedgene00006-0049-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/aae0c581f4cd/jmedgene00006-0048-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/a2ff2ba98774/jmedgene00006-0048-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/94eb4b7d828b/jmedgene00006-0048-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/b688d6d12ef1/jmedgene00006-0049-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/35e22a54bff0/jmedgene00006-0049-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/03632d2e0fa7/jmedgene00006-0049-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/730d412ec3dd/jmedgene00006-0049-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/aae0c581f4cd/jmedgene00006-0048-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/a2ff2ba98774/jmedgene00006-0048-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/94eb4b7d828b/jmedgene00006-0048-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/b688d6d12ef1/jmedgene00006-0049-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/35e22a54bff0/jmedgene00006-0049-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/03632d2e0fa7/jmedgene00006-0049-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ea2/1016340/730d412ec3dd/jmedgene00006-0049-d.jpg

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本文引用的文献

1
Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome.锁骨颅骨发育不全、严重小颌畸形、双侧拇指及第一跖骨缺如和远端指骨缺如：一种新的遗传综合征。
Am J Dis Child. 1980 Jul;134(7):649-53. doi: 10.1001/archpedi.1980.02130190017005.
2
Abnormal facies, cleft palate, and generalized dysostosis: a lethal X-linked syndrome.异常面容、腭裂和全身性骨发育异常：一种致死性X连锁综合征。
J Pediatr. 1981 May;98(5):747-52. doi: 10.1016/s0022-3476(81)80835-9.
3
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome).
Am J Med Genet. 1982 Dec;13(4):453-63. doi: 10.1002/ajmg.1320130416.
4
The oto-palato-digital syndrome, proposed type II.耳腭指综合征，II型（暂定）
Am J Med Genet. 1983 Aug;15(4):655-64. doi: 10.1002/ajmg.1320150416.
5
The roentgenographic features of the oto-palato-digital (OPD) syndrome.
Am J Roentgenol Radium Ther Nucl Med. 1967 May;100(1):63-70. doi: 10.2214/ajr.100.1.63.
6
Oto-palato-digital syndrome: comparison of clinical and radiographic manifestations in males and females.耳-腭-指综合征：男性与女性临床表现及影像学表现的比较
Am J Hum Genet. 1972 Jan;24(1):24-36.
7
Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia.
Am J Med Genet. 1985 Feb;20(2):249-54. doi: 10.1002/ajmg.1320200207.
8
Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome.男性梅尼克-尼德尔斯综合征：一种致死性多发性先天性畸形综合征。
Am J Med Genet. 1987 May;27(1):159-73. doi: 10.1002/ajmg.1320270117.
9
Melnick-Needles syndrome in males.男性梅尼克-尼德尔斯综合征
Am J Med Genet. 1987 May;27(1):153-8. doi: 10.1002/ajmg.1320270116.
10
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.III型atelosteogenesis：一种独特的骨骼发育不良，具有与atelosteogenesis和II型耳-腭-指综合征重叠的特征。
Am J Med Genet. 1990 Jun;36(2):183-95. doi: 10.1002/ajmg.1320360212.