18号染色体短臂缺失，即18p缺失综合征。
Deletion of short arm of chromosome 18, Del(18p) syndrome.
作者信息
Babaji Prashant, Singh Anurag, Lau Himani, Lamba G, Somasundaram P
机构信息
Department of Pedodontics, Vyas Dental College, Jodhpur, Rajasthan, India.
出版信息
J Indian Soc Pedod Prev Dent. 2014 Jan-Mar;32(1):68-70. doi: 10.4103/0970-4388.127063.
PMID:24531606
Abstract
Deletion of the short arm of chromosome 18 is a rare syndrome clinically presenting with variable mental retardation, growth retardation, low height, pectus excavatum, craniofacial malformations including long ear, ptosis, microcephaly and short neck. This case report presents with characteristic features along with rare feature of single nostril.
摘要
18号染色体短臂缺失是一种罕见综合征，临床上表现为不同程度的智力发育迟缓、生长发育迟缓、身材矮小、漏斗胸、颅面畸形，包括长耳、上睑下垂、小头畸形和短颈。本病例报告呈现了其特征性表现以及罕见的单鼻孔特征。
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