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16 recordsLinked to original sources
PubMed1977

[Branchiogenic preauricular fistulae].

Seventeen patients with dimples, fistulae and cysts in the region of the cheek and the preauricular field are reported. All are located in the neighborhood of the dorsal end of the first visceral arch. Both the fistulae of the ascending helix and the upper preauricular fistulae must be regarded as relics of the dorsal end of the first branchial cleft. This interpretation supports the theory of Wood-Jones and I-Chuan according to which the tragus is formed from the material of the mandibular arch, and the remaining part of the auricle from the mesoderm of the second visceral arch. Similar anomalies in the neighborhood of the angle of the mouth, the extraoral opening of an accessory duct of Stensen and the inferior preauricular fistula are sufficiently explained by the incomplete closure or tearing of the embryonal oral aperture.

Adolescent↗
PubMed1978

[Basal cell carcinoma developing in a preauricular fistula (author's transl)].

Malignant neoplasms in lateral cervical cysts and fistulae have been frequently described in the literature. In the following case, a tumor is reported which was found in the unusual localization of a preauricular fistula. The histologic diagnosis was basal cell carcinoma. In this 41-year-old male patient the tumor led to local recurrent inflammatory symptoms. Therapy consisted first of excision of the fistula. After final diagnosis was made, total parotidectomy and an additional excision of the skin were carried out.

Adult↗
PubMed1979

Familial transmission of preauricular fistula in a seven generation Indian pedigree.

Familial occurrence of fistula auris congenita (ear pits) is described in a Muslin kindred of Indian origin. The pedigree was traced through seven generations. The abnormality appeared in sixty individuals comparising equal number of males and females. No sexual dimorphism was indicated in the expression of the trait, which occurred bilaterally as a small pit just anterior to the crus at the root of the ascending helix. The abnormality was found to be inherited through an autosomal dominant gene with incomplete penetrance. The expression of the trait does not show any dosage effect.

Consanguinity↗
PubMed1979

[Hereditary combination of branchial fistulas and middle ear malformations (author's transl)].

Four cases with hereditary combinations of branchial fistulas and middle ear malformations in three generations of one family are reported. We found preauricular fistulas and lateral cervical fistulas combined with different types of middle ear dysplasias. In one case a preauricular fistula running through the middle ear and ending in the dura could be exstirpated. Such rare varieties must be considered, when preauricular fistulas are found together with congenital middle ear deafness.

Abnormalities, Multiple↗
PubMed2026

Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome.

BACKGROUND: Treacher Collins syndrome (TCS) is a congenital craniofacial disorder characterized by malar and mandibular hypoplasia, downward-slanting palpebral fissures, and conductive hearing loss. Pathogenic variants in TCOF1 account for most cases, with POLR1D, POLR1C, and POLR1B also implicated. METHODS: Whole-exome sequencing was performed in a two-generation Chinese family with TCS, followed by Sanger sequencing validation. Clinical features were systematically evaluated, and bioinformatic analyses combined with structural modeling were employed to assess the potential pathogenicity of the identified variant. RESULTS: In this study, a novel heterozygous frameshift variant in TCOF1 (NM_001371623.1:c.1601_1602delCC, p.Pro534Leufs*15) was identified in the proband and his affected father. The proband presented classic TCS features including craniofacial skeletal hypoplasia, downward-slanting palpebral fissures, and conductive hearing loss. He also carried a right-sided preauricular fistula, a nonclassical feature of TCS. The same variant was detected in his affected father with a substantially milder phenotype, indicating marked intrafamilial phenotypic variability. Bioinformatic analysis and structural modeling predicted that this variant produces a severely truncated Treacle protein lacking key functional domains, which is predicted to disrupt nucleolar localization and ribosome biogenesis. CONCLUSION: Our findings expand the variant spectrum of TCOF1, highlight phenotypic heterogeneity in TCS, and reinforce the critical role of molecular diagnosis in distinguishing TCS from phenotypically overlapping craniofacial syndromes.

Humans↗
PubMed1979

Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

Oculoauriculovertebral dysplasia is a developmental disorder characterized by a triad of anomalies; epibulbar dermoids with or without lipodermoids, preauricular appendages or blind preauricular fistulae, and vertebral anomalies. Multiple associated anomalies have been reported. A case of this syndrome and a review of the literature are presented herein.

Adult↗
PubMed1977

A simple score to facilitate detection of congenital disorders.

A simple score has been constructed to facilitate the selection of apparently normal newborns at risk or hidden congenital disorders. Components of the score are family history of previous malformations, stillbirth or infantile death of unknown origin, intrauterine growth retardation (2 points each), and six minor malformations: antimongoloid palpebral slant, hypertelorism, preauricular fistula, simian crease, mammillary and hallucal abnormality (1 point each). Out of 1000 consecutive neonates screened with the method 28 scored 3 or more, in 6 of whom hidden congenital abnormalities were discovered at later reexamination. At the same time only 2 hidden defects were found in the children with a neonatal score of 2 or less. Although the follow-up was incomplete, the results suggest that the score is useful in selecting infants for more complicated clinical and genetic investigations.

Biliary Tract↗
PubMed1977

Genetic hearing loss with preauricular sinus and branchiogenic fistula.

A mother and her two children had hearing loss associated with bilateral preauricular sinus and branchiogenic fistula. All six cochleas studied showed two turns rather than 2 1/2 turns. Complete studies including audiometry, tympanotomy findings, and temporal bone polytomography of these anomalies are reported. Similar cases reported in the English literature are reviewed. It seems that all previous cases may have had an abnormal cochlea as was seen in these cases.

Adult↗
PubMed1977

Hereditary deafness associated with branchial fistulae and external ear malformations.

Two families are presented in which affected members had deafness, preauricular sinuses, branchial fistulae and malformation of the external ear. In Family I, a renal abnormality was an associated feature. In Family 2, two individuals had an abnormality of the incudostapedial joint. In both families inheritance was autosomal dominant with variable expressivity. The occurrence of external-ear malformations, branchial fistulae, and preauricular sinuses should indicate the need to search for a hearing loss not only in the patient but amongst relatives.

Abnormalities, Multiple↗
PubMed1976

Severe renal dysgenesis produced by a dominant gene.

A woman with the autosomal dominant syndrome of preauricular pits, cervical fistulae, and partial deafness gave birth to two children with preauricular pits and severe renal dysgenesis. The facies had some features of the Potter facies of renal agenesis. One child died soon after birth because of pneumothorax and immature development of the lungs. We suggest that all infants with renal agenesis or dysgenesis be examined for preauricular pits because of the high recurrence risk of renal anomalies in families with this syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Ear anomalies associated with renal dysplasia and immunodeficiency disease. A histopathological study.

The histopathologic study of the temporal bones of a case with low-set rudimentary auricles, without preauricular pits or cervical fistula is presented. Abnormalities of the middle and inner ear, fusion of the kidneys, hydrocephalus, short-limbed dwarfism and immunodeficiency are described. An abnormally low position of the middle cranial fossa in relation to the petrous pyramid was observed. The cochlea was of normal length. The modiolus was poorly developed with apparently normal population of ganglion cells and moderate diffuse hydrops of the cochlear duct and saccule. The stria vascularis was partially degenerated in the upper apical coil. Vestibular abnormalities included bilateral absence of common crus of the vertical canals and unusually high origin of endolymphatic aqueduct with no medial dilation present, the convoluted portion of the sac located beneath the dura.

Abnormalities, Multiple↗
PubMed1978

Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.

A pedigree of branchio-oto-renal dysplasia (the BOR syndrome) is reported, including the documentation by serial audiometric studies of the onset and rapid progression of hearing loss in the twin sister of an affected child. The literature on this syndrome is analyzed to derive some figures for use in genetic counseling of such families. Branchio-oto-renal dysplasia is an autosomal dominant disorder in which affected individuals may have preauricular pits, lachrymal duct stenosis, hearing loss, branchial fistulas or cysts, structural defects of the outer, middle, and inner ear, and renal anomalies, which may range from mild hypoplasia to complete absence. Not all features of the syndrome are expressed in all carriers of the gene, but few carriers lack all the features, and the pits, branchial clefts, and hearing loss, are frequently expressed. Those offspring of affected persons who have pits or fistulas are likely (about 80%) to have hearing loss of varying degrees of severity. A minority of heterozygotes (about 7%) may have hearing loss without pits or fistulas. The risk of severe renal malformation is probably fairly low. Whether families that show dominant inheritance of pits, clefts, and deafness without renal anomalies represent variants of the BOR syndrome or a separate entity (the BO syndrome), is still not clear. At present, any individual with preauricular pits and branchial clefts deserves both otologic and renal investigation.

Abnormalities, Multiple↗
PubMed1977

Ocular involvement in Yersinia enterocolitica infection presenting as Parinaud's oculoglandular syndrome.

Ocular involvement in Yersinia enterocolitica infection presenting as a Parinaud's oculoglandular syndrome occurred in a 77-year-old woman with diabetes. Yersinia enterocolitica was recovered from cultures of the conjunctiva, cornea, fistula tract, and blood. The patient responded to parenteral and topical administration of gentamicin and a corneal transplant. While hospitalized, she developed peritonsillar inflammation and enlarged, tender lymph nodes in the preauricular, submaxillary, and submandibular areas. The combination of the unilateral granulomatous conjunctivitis and enlarged regional lymph nodes was consistent with the diagnosis of Parinaud's oculoglandular syndrome. Yersinia enterocolitica may be another cause of Parinaud's oculoglandular syndrome.

Aged↗
PubMed1979

Surgical treatment of the infected preauricular sinus.

Preauricular sinus is a frequent occurring congenital abnormality (circa 0.25% in the white race), but gives mostly no symptoms. In a certain amount of cases symptoms can arise as recurring purulent secretion or a preauricular abscess. If the disease is recognized an adequate therapy can be accomplished. Sometimes the disease is not recognized and diagnosed as a sebaceous cyst or a furunculus. Also, if the sinus is recognized, it is necessary not to underestimate the disease. In several clinical studies a recurrencerate of 15--33% is quoted. Singer published in 1966 a technique of extirpation of the infected preauricular sinus with excellent results. This technique was adopted with addition of the use of the operating microscope. In nine patients with an infected preauricular sinus extirpation in toto was accomplished in a silent period. Under these nine patients were two recurrences after previous inadequate surgery. After a minimal follow-up of 2 years the patients were symptom-free. The quoted technique of extirpation of the infected preauricular sinus in toto seems to be an improvement for the therapeutic armamentarium.

Adolescent↗
PubMed1979

[Goldenhar syndrome].

The basic features of Goldenhar syndrome are preauricular appendices, epibulbar dermoids, vertebral and cardiac anomalies, and hypoplasia of the lungs. The syndrome appears to be caused by early damage during the first or second month of embryonic development. Prognosis is most often determined by the underlying heart disease. In the present study a 24-year-old female student is reported who exhibited a preauricular appendix on the right side, severe thoracic scoliosis, aplasia of the middle and lower lobes of the right lung, dextropositio cordis and an atrial septal defect with severe pulmonary hypertension. Cineangiocardiography revealed a mitral valve prolapse with slight mitral regurgitation and a dilated right ventricle with severe tricuspid regurgitation. Left and right ventricular function was slightly to moderately reduced. Selective coronary arteriography revealed a coronary fistula from an atrial branch of the left coronary artery to the right atrium. Symptomatic therapy with digitalis, anticoagulation and repeated venesection was initiated because of the severe hemodynamic findings. However, the patient developed syncope at increasingly frequent intervals and died 3 months after the initial examination.

Adult↗