两兄弟患小牙畸形伴严重小头畸形和身材矮小：伴有牙齿表现的骨发育异常原发性侏儒症

Microdontia with severe microcephaly and short stature in two brothers: osteodysplastic primordial dwarfism with dental findings.

作者信息

Lin H J, Sue G Y, Berkowitz C D, Brasel J A, Lachman R S

机构信息

Department of Pediatrics, Harbor-UCLA Medical Center, Torrance 90502, USA.

出版信息

Am J Med Genet. 1995 Aug 28;58(2):136-42. doi: 10.1002/ajmg.1320580209.

DOI:10.1002/ajmg.1320580209

PMID:8533804

Abstract

Two brothers from a black family had microcephaly, short stature, and generalized microdontia. Endocrine and chromosome studies were normal, and mild skeletal manifestations were present. The patients may represent a distinct dental-skeletal dysplasia, possibly osteodysplastic primordial dwarfism type II. Attention to dental manifestations in similar cases may be useful for classification.

摘要

一个黑人家庭的两兄弟患有小头畸形、身材矮小和全身性小牙症。内分泌和染色体检查正常，并有轻度骨骼表现。这些患者可能代表一种独特的牙骨骼发育异常，可能是II型骨发育不良原发性侏儒症。关注类似病例中的牙齿表现可能有助于分类。