MIDLINE FACIAL DEFECTS WITH OCULAR COLOBOMATA

被引：28

作者：

TEMPLE, IK

BRUNNER, H

JONES, B

BURN, J

BARAITSER, M

机构：

[1] UNIV NEW MEXICO, DIV HUMAN GENET, ALBUQUERQUE, NM 87131 USA

[2] HOSP SICK CHILDREN, DEPT CLIN GENET, LONDON WC1N 3JH, ENGLAND

[3] HOSP SICK CHILDREN, DEPT PLAST SURG, LONDON WC1N 3JH, ENGLAND

[4] CATHOLIC UNIV NIJMEGEN, DEPT HUMAN GENET, NIJMEGEN, NETHERLANDS

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 37卷 / 01期

关键词：

frontofacionasal 'dysplasia'; frontonasal 'dysplasia'; iris colobamata;

D O I：

10.1002/ajmg.1320370107

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe 5 children with midline facial anomalies and iris colobomata reminiscent of frontonasal 'dysplasia'. Two patients have, in addition, abnormalities of the eyelids and one of them probably has the rare autosomal recessive condition frontofacionasal 'dysplasia'. The patients may have a new syndrome of midline facial defects, iris colobomata, and mental retardation.

引用

页码：23 / 27

页数：5

共 50 条

[21] Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism
M. Simioni
É. Lopes Freitas
T. Paiva Vieira
I. Lopes-Cendes
V. Lúcia Gil-da-Silva-Lopes
Journal of Applied Genetics, 2010, 51 : 219 - 221
[22] Coincidence of Dental Midline with Facial Midline in a Sample of Pakistani Population
Khan, Mehwish
Kazmi, Syed Murtaza Raza
JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, 2019, 29 (03): : 210 - 213
[23] SIGNIFICANCE OF ATYPICAL COLOBOMATA AND DEFECTS OF IRIS FOR DIAGNOSIS OF HEREDITARY ANIRIDIA SYNDROME
DELLEMAN, JW
WINKELMAN, JE
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 1973, 163 (05) : 528 - 542
[24] Malformations of Cortical Development in Patients With Mid line Facial Defects and Ocular Hypertelorism
Araujo Giffoni, Silvyo David
Cendes, Fernando
Valente, Marcelo
Gil-da-Silva-Lopes, Vera Lucia
CLEFT PALATE-CRANIOFACIAL JOURNAL, 2010, 47 (04): : 343 - 351
[25] Diaphragmatic and multiple midline defects
Winter, RM
AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 63 (02): : 411 - 411
[26] CONGENITAL TELENCEPHALIC MIDLINE DEFECTS
JELLINGER, K
GROSS, H
NEUROPADIATRIE, 1973, 4 (04): : 446 - 452
[27] Assessment of rodent whole embryo and zebrafish embryo culture assays as a predictive model for midline facial defects
Sutherland, V
Brannen, K
Jacobs, MA
Danberry, TL
Rayhon, SL
Garrison-Borowski, P
Cl, G
Olitan, L
Panzica, KJM
Seethala, R
Sloan, S
Hanumegowda, U
Augustine, KA
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2006, 76 (05) : 398 - 398
[28] A Rare Patient With Midline Facial Cleft
Zhou, Xinli
Chen, Renji
Guo, Siyuan
JOURNAL OF CRANIOFACIAL SURGERY, 2021, 32 (06) : E522 - E524
[29] RECORDING THE FACIAL MIDLINE FOR ORTHOGNATHIC PLANNING
BAMBER, MA
BRITISH JOURNAL OF ORAL & MAXILLOFACIAL SURGERY, 1995, 33 (02): : 112 - 114
[30] DIFFERENTIAL DIAGNOSIS OF MIDLINE FACIAL GRANULOMAS
VANDEMOER, JN
ADAMS, DM
SOUTHERN MEDICAL JOURNAL, 1975, 68 (10) : 1255 - 1259

← 1 2 3 4 5 →