CONGENITAL CONDUCTIVE OR MIXED DEAFNESS, PREAURICULAR SINUS, EXTERNAL EAR ANOMALY, AND COMMISSURAL LIP PITS - AN AUTOSOMAL DOMINANT INHERITED SYNDROME

被引：21

作者：

MARRES, HAM ^{[1
]}

CREMERS, CWRJ ^{[1
]}

机构：

[1] CATHOLIC UNIV NIJMEGEN,DEPT OTORHINOLARYNGOL,POB 9101,6500 HB NIJMEGEN,NETHERLANDS

来源：

ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY | 1991年 / 100卷 / 11期

关键词：

AUTOSOMAL DOMINANCE; COMMISSURAL LIP PITS; CONGENITAL HEARING LOSS; EAR ANOMALIES; GENETIC DEAFNESS; PREAURICULAR SINUS;

D O I：

10.1177/000348949110001113

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

Branchiogenic syndromes such as branchio-oto-renal syndrome, Treacher Collins syndrome, and hemifacial microsomia are well delineated. From a clinical study in a large family spanning three generations, it can be concluded that the association of conductive deafness, commissural lip pits, preauricular sinuses, and external ear anomalies can be differentiated from the above-mentioned syndromes and is a separate autosomal dominant syndrome.

引用

页码：928 / 932

页数：5

共 8 条

[1] THE DEAFNESS, PREAURICULAR SINUS, EXTERNAL EAR ANOMALY AND COMMISSURAL LIP PITS SYNDROME - OTOLOGIC, VESTIBULAR AND RADIOLOGICAL FINDINGS
MARRES, HAM
CREMERS, CWRJ
HUYGEN, PLM
JOOSTEN, FBM
JOURNAL OF LARYNGOLOGY AND OTOLOGY, 1994, 108 (01): : 13 - 18
[2] A family with autosomal dominant inherited dysmorphic small auricles, lip pits, and congenital conductive hearing impairment
Koch, SMP
Kumar, S
Cremers, WRJ
ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY, 2000, 126 (05) : 639 - 644
[3] Autosomal dominant inheritance of conductive deafness, external ear malformations and congenital facial palsy: Second description.
Aguirre, MA
Perandones, C
Furforo, EL
Perez, M
Rodriguez, HA
Alba, L
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A139 - A139
[4] AUTOSOMAL DOMINANT INHERITANCE OF CONDUCTIVE DEAFNESS DUE TO STAPEDIAL ANOMALIES, EXTERNAL EAR MALFORMATIONS AND CONGENITAL FACIAL PALSY
SELLARS, S
BEIGHTON, P
CLINICAL GENETICS, 1983, 23 (05) : 376 - 379
[5] HPPD: A Newly Recognized Autosomal Dominant Disorder Involving Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness Mapping to Chromosome 14q31
Sampath, Srirangan
Keats, Bronya J. B.
Lacassie, Yves
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (05) : 976 - 985
[6] Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: Branchio-oto-costal syndrome?
Clementi, M
Mammi, I
Tenconi, R
AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 68 (01): : 91 - 93
[7] CONDUCTIVE HEARING-LOSS, MIDDLE-EAR OSSICULAR ANOMALIES, MALFORMED THICKENED LOP AURICLES, AND MICROGNATHIA - A RARE AUTOSOMAL DOMINANT CONGENITAL SYNDROME
SCHWEITZER, VG
KEMINK, JL
GRAHAM, MD
AMERICAN JOURNAL OF OTOLOGY, 1984, 5 (05): : 387 - 391
[8] Brancial arch anomalies, hearing loss and ear pits inherited in an autosomal dominant manner: genetic evidence that branchio-oculo-facial and associated conditions are not identical to branchio-oto-renal syndrome
Constantine A Stratakis
Jing-Ping Lin
Owen M Rennert
Pediatric Research, 1998, 43 (Suppl 4) : 128 - 128

← 1 →