Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?

被引：1

作者：

Siegel-Bartlet, J

Levin, A

Teebi, AS

Kennedy, SJ

机构：

[1] Hosp Sick Children, Div Clin & Metabol Genet, Sect Clin Genet & Dysmorphol, Toronto, ON M5G 1X8, Canada

[2] Hosp Sick Children, Div Clin & Metab Genet, Sect Clin Genet & Dysmorphol, Toronto, ON M5G 1X8, Canada

[3] Hosp Sick Children, Dept Ophthalmol, Toronto, ON M5G 1X8, Canada

来源：

JOURNAL OF MEDICAL GENETICS | 2002年 / 39卷 / 02期

关键词：

D O I：

10.1136/jmg.39.2.145

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：145 / 148

页数：4

共 6 条

[1] Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: A new autosomal recessive MCA/MR syndrome?
Kondoh, T
Yamamoto, T
Kono, Y
Matsumoto, T
Sugawara, H
Matsumoto, N
Moriuchi, H
AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 102 (01): : 63 - 67
[2] A PREVIOUSLY UNDESCRIBED AUTOSOMAL RECESSIVE MULTIPLE CONGENITAL-ANOMALIES MENTAL-RETARDATION (MCA MR) SYNDROME WITH GROWTH FAILURE, LIP PALATE CLEFT(S), AND UROGENITAL ANOMALIES
MALPUECH, G
DEMEOCQ, F
PALCOUX, JB
VANLIEFERINGHEN, P
AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 16 (04): : 475 - 480
[3] Previously Apparently Undescribed Autosomal-Recessive Multiple Congenital Anomalies/Mental Retardation (MCA/MR) Syndrome Comprising: Fronto-Nasal Dysplasia, Hypertelorism, Short Stature and Brachydactily
Haimi, Motti
Gershoni-Baruch, Ruth
CURRENT PEDIATRIC REVIEWS, 2007, 3 (04) : 328 - 331
[4] Three sibs with microcephaly, congenital heart disease, lung segmentation defects and unilateral absent kidney: A new recessive multiple congenital anomaly (MCA) syndrome?
Ellis, IH
Yale, C
Thomas, R
Garrett, C
Winter, RM
CLINICAL DYSMORPHOLOGY, 1996, 5 (02) : 129 - 134
[5] A PREVIOUSLY UNDESCRIBED AUTOSOMAL RECESSIVE MULTIPLE CONGENITAL-ANOMALIES MENTAL-RETARDATION (MCA/MR) SYNDROME WITH FRONTO-NASAL DYSOSTOSIS, CLEFT-LIP PALATE, LIMB HYPOPLASIA, AND POSTAXIAL POLY-SYNDACTYLY - ACRO-FRONTO-FACIO-NASAL DYSOSTOSIS SYNDROME
RICHIERICOSTA, A
COLLETTO, GMDD
GOLLOP, TR
MASIERO, D
AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 20 (04): : 631 - 638
[6] Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation - New MCA/MR syndrome in two affected sibs and a mildly affected mother?
Wieczorek, Dagmar
Shaw-Smith, Charles
Kohlhase, Juergen
Schmitt, Wolfgang
Buiting, Karin
Coffey, Alison
Howard, Eleanor
Hehr, Ute
Gillessen-Kaesbach, Gabriele
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (11) : 1135 - 1142

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