肢端中胚层发育不全性侏儒症：一种新的变异型。

Acromesomelic dwarfism: a new variation.

作者信息

Ferraz F G, Maroteaux P, Sousa J P, Alves T, Dias I, Ferraz E, Marques M, Santos L

机构信息

Department of Genetics, HCL, Pediatrics Hospital of D Estefânia, Lisbon, Portugal.

出版信息

J Pediatr Orthop B. 1997 Jan;6(1):27-32. doi: 10.1097/01202412-199701000-00007.

DOI:10.1097/01202412-199701000-00007

PMID:9039664

Abstract

The rate skeletal disorder, acromesomelic dwarfism, is characterized by short stature and short limbs. Bone dysplasia is evident. We report two cases of a variation of this disorder in a Portuguese woman and her son. The clinical features of these two cases differ from those of cases previously reported in the literature.

摘要

骨骼疾病——肢中短小畸形侏儒症的特征是身材矮小和四肢短小。骨骼发育异常明显。我们报告了一名葡萄牙女性及其儿子患有这种疾病变异型的两例病例。这两例病例的临床特征与文献中先前报道的病例不同。