当前位置： SCI文献检索 > INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY期刊下所有文献 > Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders.

Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders.

Abstract：

:Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial, ear, branchial, and musculoskeletal anomalies, along with hearing loss and mild intellectual disability. Clinically, its distinction from branchiootorenal syndrome can be difficult. To date, the coexistence of OFCS and metachondromatosis has not been reported. Here, we describe a sporadic patient with both OFCS and metachondromatosis. This novel association prompts us to do some remarks on the clinical variability of branchial-arch disorders; in fact, our observations are consistent with the highly variable expressivity of OFCS and illustrate the need of a more accurate characterization of these branchial-arch disorders. In the meantime, involvement of clavicles, scapulae and shoulders remains a distinctive feature of OFCS.

journal_name

Int J Pediatr Otorhinolaryngol

journal_title

International journal of pediatric otorhinolaryngology

authors

Salinas-Torres VM,Salinas-Torres RA

doi

10.1016/j.ijporl.2016.03.021

subject

Has Abstract

pub_date

2016-06-01 00:00:00

pages

19-21

eissn

0165-5876

issn

1872-8464

pii

S0165-5876(16)30014-3

journal_volume

85

pub_type

杂志文章

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