Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings.: A new syndrome?

被引：3
作者：
Sinnerbrink, IB
Adés, LC
机构：
[1] Childrens Hosp Westmead, Western Sydney Genet Program, Dept Clin Genet, Sydney, NSW, Australia
[2] Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia
来源：
CLINICAL DYSMORPHOLOGY | 2004年 / 13卷 / 03期
关键词：
short stature; sensorineural deafness; coloboma; keratoconus; mental retardation;
D O I：
10.1097/01.mcd.0000115200.74297.cf
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We describe a brother and sister with craniofacial dysmorphism, short stature, relative obesity, sensorineural deafness, multiple pigmented naevi and severe mental retardation. One sibling had keratoconus and the other had an iris coloboma. Dysmorphic features included brachycephaly, hypotelorism, small mouth, thin lips, pterygium colli, broad chest, widely spaced nipples and cutaneous second and third toe syndactyly. The children demonstrate some features of Noonan syndrome, but we believe that they have a different and distinctive phenotype. We have reviewed similar cases in the literature and discuss these in the context of our cases, who may have a previously undescribed syndrome. (C) 2004 Lippincott Williams Wilkins.
引用
收藏
页码：173 / 177
页数：5
相关论文
共 50 条
[31]   Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations:: a second family with micro syndrome or a new syndrome? [J].
Mégarbané, A ;
Choueiri, R ;
Bleik, J ;
Mezzina, M ;
Caillaud, C .
JOURNAL OF MEDICAL GENETICS, 1999, 36 (08) :637-640
[32]   Post-natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age:: A new syndrome? [J].
Mégarbané, A ;
Rassi, S ;
Estephan, F ;
Kouba-Hreich, E .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 125A (01) :57-60
[33]   Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings [J].
Topaloglu, H ;
Talim, B ;
Vignier, N ;
Helbling-Leclerc, A ;
Yetuk, M ;
Afsin, IE ;
Caglar, M ;
Kale, G ;
Guicheney, P .
NEUROMUSCULAR DISORDERS, 1998, 8 (3-4) :169-174
[34]   FALLOT COMPLEX, SEVERE MENTAL, AND GROWTH-RETARDATION - A NEW AUTOSOMAL RECESSIVE SYNDROME [J].
BINDEWALD, B ;
ULMER, H ;
MULLER, U .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 50 (02) :173-176
[35]   Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome [J].
Liao, Lihong ;
Gan, Hoong-Wei ;
Hwa, Vivian ;
Dattani, Mehul ;
Dauber, Andrew .
HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 (05) :364-370
[36]   A Second Patient With Tsukahara Syndrome: Type A1 Brachydactyly, Short Stature, Hearing Loss, Microcephaly, Mental Retardation, and Ptosis [J].
Utine, Guelen Eda ;
Breckpot, Jeroen ;
Thienpont, Bernard ;
Alanay, Yasemin ;
Aksoy, Cemalettin ;
Boduroglu, Koray ;
Devriendt, Koenraad .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (04) :947-949
[37]   The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein [J].
van Duyvenvoorde, H. A. ;
van Doorn, J. ;
Koenig, J. ;
Gauguin, L. ;
Oostdijk, W. ;
Wade, J. D. ;
Karperien, M. ;
Ruivenkamp, C. A. L. ;
Losekoot, M. ;
van Setten, P. A. ;
Walenkamp, M. J. E. ;
Noordam, C. ;
De Meyts, P. ;
Wit, J. M. .
GROWTH HORMONE & IGF RESEARCH, 2011, 21 (01) :44-50
[38]   Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome? [J].
Horn, D ;
Muller, D ;
Thiele, H ;
Kunze, J .
CLINICAL DYSMORPHOLOGY, 1997, 6 (04) :323-328
[39]   New syndrome?: 46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters [J].
Hisama, FM ;
Zemel, S ;
Cherniske, EM ;
Vladutiu, GD ;
Pober, BR .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 98 (02) :121-124
[40]   X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28 [J].
Armfield, K ;
Nelson, R ;
Lubs, HA ;
Häne, B ;
Schroer, RJ ;
Arena, F ;
Schwartz, CE ;
Stevenson, RE .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 85 (03) :236-242
12345