» Articles » PMID: 7917123

Autosomal Dominant Congenital Macroglossia: Further Delineation of the Syndrome

Overview
Journal Genet Couns
Specialties Genetics
Medical Ethics
Date 1994 Jan 1
PMID 7917123
Citations 4
Authors
Affiliations
Soon will be listed here.
Abstract

We describe seven patients from two Mexican families with congenital macroglossia. Comparative analysis of these cases and the patients previously described in literature, allows to confirm the notion that this isolated primary macroglossia is a distinct dominant condition.

Citing Articles

Clinical applications of gene therapy for rare diseases: A review.

Papaioannou I, Owen J, Yanez-Munoz R Int J Exp Pathol. 2023; 104(4):154-176.

PMID: 37177842 PMC: 10349259. DOI: 10.1111/iep.12478.


Germline PRKACA amplification leads to Cushing syndrome caused by 3 adrenocortical pathologic phenotypes.

Carney J, Lyssikatos C, Lodish M, Stratakis C Hum Pathol. 2014; 46(1):40-9.

PMID: 25449630 PMC: 6309372. DOI: 10.1016/j.humpath.2014.09.005.


Surgical treatment of congenital true macroglossia.

Pinho Costa S, Brinhole M, da Silva R, Dos Santos D, Tanabe M Case Rep Dent. 2014; 2013:489194.

PMID: 24381769 PMC: 3870103. DOI: 10.1155/2013/489194.


Family aggregation of upper airway soft tissue structures in normal subjects and patients with sleep apnea.

Schwab R, Pasirstein M, Kaplan L, Pierson R, Mackley A, Hachadoorian R Am J Respir Crit Care Med. 2005; 173(4):453-63.

PMID: 16210668 PMC: 2662941. DOI: 10.1164/rccm.200412-1736OC.