New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation.
作者信息
Tsukahara M, Sugio Y
机构信息
School of Allied Health Sciences, Yamaguchi University, Japan.
出版信息
J Hum Genet. 1998;43(4):224-7. doi: 10.1007/s100380050077.
PMID:9852671
Abstract
We report on three brothers, aged 6, 3, and 2 years, with a hitherto undescribed combination of microcephaly, facial abnormalities, micromelia, and mild mental retardation. Their facial abnormalities included a forehead with bitemporal constriction, upslanting palpebral fissures, synophrys, a short nose with anteverted nostrils, a short columella, a cupid bow-shaped, thin vermilion border of the upper lip, and micrognathia. Their mother had similar clinical manifestations, but was of normal intelligence. The disease was apparently transmitted in a dominant fashion.
摘要
相似文献
1
New dominant syndrome of microcephaly, facial abnormalities, micromelia, and mental retardation.
J Hum Genet. 1998;43(4):224-7. doi: 10.1007/s100380050077.
2
Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay.
Am J Med Genet. 1997 Mar 31;69(3):245-9.
3
Brief clinical report: an X-linked mental retardation syndrome with craniofacial abnormalities, microcephaly and club foot.
Am J Med Genet. 1984 Jan;17(1):375-82. doi: 10.1002/ajmg.1320170131.
4
Dominantly inherited syndrome of microcephaly and cleft palate.小头畸形和腭裂的显性遗传综合征。
Am J Med Genet. 1983 May;15(1):135-40. doi: 10.1002/ajmg.1320150118.
5
A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs.同胞中出现的一种新的侏儒症、短指畸形、指甲发育异常和智力迟钝综合征。
Am J Med Genet. 1990 May;36(1):89-93. doi: 10.1002/ajmg.1320360117.
6
Autosomal dominant microcephaly with mental retardation.
Am J Med Genet. 1989 Jul;33(3):382-4. doi: 10.1002/ajmg.1320330318.
7
Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder.远端无指骨、并指畸形及额外跖骨，伴身材矮小、小头畸形及边缘智力：一种新的常染色体显性遗传病。
Am J Med Genet. 1995 Jan 16;55(2):213-6. doi: 10.1002/ajmg.1320550212.
8
A new X-linked multiple congenital anomalies/mental retardation syndrome.一种新的X连锁多发性先天性畸形/智力发育迟缓综合征。
Am J Med Genet. 1984 Jan;17(1):367-74. doi: 10.1002/ajmg.1320170130.
9
The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation.
Am J Med Genet. 1990 Sep;37(1):106-8. doi: 10.1002/ajmg.1320370125.
10
The Borjeson-Forssman-Lehmann syndrome. A family study.博耶森-福斯曼-莱曼综合征。一项家族研究。
Clin Genet. 1986 Apr;29(4):317-20.
Zotero 插件