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| 11. |
A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges |
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Clinical Genetics,
Volume 27,
Issue 1,
1985,
Page 85-91
Roberta Goldshlag Cooks,
Marjorie Hertz,
Marissa Bat Miriam Katznelson,
Richard M. Goodman,
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摘要:
A family in which two generations have a rare and previously undescribed form of nail dysplasia with bone abnormalities is reported. This disorder is characterized by onychodystrophy, anonychia, brachydactyly of the fifth digit of the hands, and digitalization of the thumbs, with absence and/or hypoplasia of the distal phalanges of the hands and feet. The probable mode of transmission is autosomal dominant.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00189.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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| 12. |
Trisomy 10 mosaicism in a newborn boy; delineation of the syndrome |
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Clinical Genetics,
Volume 27,
Issue 1,
1985,
Page 92-96
H. F. de France,
F. A. Beemer,
R. Ch. Senders,
S. C. E. Schaminee‐Main,
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摘要:
The fifth case of trisomy 10 mosaicism is presented. Only in cultured fibroblasts this mosaicism was found, while peripheral lymphocytes revealed a normal karyotype. In comparison with the literature, trisomy 10 mosaicism syndrome is further delineated compromising of failure to thrive, high forehead, hypertelorism, mongoloid eye slant, blepharophimosis, dysplastic, large ears, retrognathia, long slender trunk, marked plantar and palmar furrows, cardiopathy and early death.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00190.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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| 13. |
Karsch‐Neugebauer syndrome: split foot/split hand and congenital nystagmus |
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Clinical Genetics,
Volume 27,
Issue 1,
1985,
Page 97-101
Robert T. Pilarski,
Richard M. Pauli,
George H. Bresnick,
Ruth M. Lebovitz,
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摘要:
A family with four members with split foot/split hand malformations and congenital nystagmus is described. The clinical characteristics in this family correspond to those seen in two other families previously reported. Taken together, these three families suggest that a single, pleiotropic dominant gene is causal. Karsch‐Neugebauer syndrome is suggested as an appropriate eponymic designation for this disorde
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00191.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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| 14. |
Non‐dermatological complications and genetic aspects of the Rothmund‐Thomson syndrome |
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Clinical Genetics,
Volume 27,
Issue 1,
1985,
Page 102-104
D. G. Starr,
J. P. McClure,
J. M. Connor,
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摘要:
We report two new cases of Rothmund‐Thomson syndrome which emphasise the less well‐known non‐dermatological complications, namely: hypodontia, soft tissue contractures, proportionate short stature, hypogonadism, anaemia and osteogenic sarcoma. Genetic analysis of these and previously reported pedigrees supports autosomal recessive inheri
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00192.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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| 15. |
De novo t(4;5) (q3100; q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment |
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Clinical Genetics,
Volume 27,
Issue 1,
1985,
Page 105-109
Horacio Rivera,
Araceli Rolón,
José Sánchez‐Corona,
José María Cantú,
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摘要:
An 8‐month‐old boy with multiple malformations and psychomotor retardation was found to have ade novot(4;5)(q3100;q2200) with del(5)(ql500q2200). The phenotypical comparison with 10 similar monosomic cases from the literature led us to tentatively delineate a 5q monosomy syndrome and to postulate the band 5ql5 as the correspondent critical segm
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00193.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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| 16. |
Letter to the Editors |
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Clinical Genetics,
Volume 27,
Issue 1,
1985,
Page 110-111
Fiorella Shabtai,
Jacob Hart,
Isaac Halbrecht,
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ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00194.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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| 17. |
Announcement |
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Clinical Genetics,
Volume 27,
Issue 1,
1985,
Page 112-112
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PDF (34KB)
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ISSN:0009-9163
DOI:10.1111/j.1399-0004.1985.tb00195.x
出版商:Blackwell Publishing Ltd
年代:1985
数据来源: WILEY
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