Branchial Arch Anomalies Research Articles

Unilateral agenesis of the parotid gland: an unusual entity

Agenesis of the parotid gland is extremely rare with only few cases reported in the medical literature. This entity can be important to diagnose as occasionally the normal parotid gland can be mistaken for a tumor due to the facial asymmetry. In this article, we present the case of an isolated unilateral parotid gland agenesis in a young child. The entity is discussed along with important associated conditions that should be ruled out. These include amongst others first and second branchial arch anomalies, as well as the Levy-Hollister or lacrimo-auriculo-dentodigital syndrome.

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

Malformations of the craniofacial region are reviewed with respect to evolutionary, embryonic, genetic, and clinical perspectives under the following headings: How Old Is Our Head?, Head Organization Genes, Genetics of Craniofacial Anomalies, Craniofacial Derivatives, Anencephaly, Cephalocele, Holoprosencephaly, Craniosynostosis, Hypertelorism, Branchial Arch Anomalies, and Orofacial Clefting.

Ectopic thymus presenting as a submandibular swelling

Submandibular swellings occur relatively commonlyin infants and children. Such swellings may be con-genital or acquired. The differential diagnoses gener-ally include common conditions, such as cervicallymphadenopathy, branchial arch anomalies, vascularmalformations, inflammatory lesions and, less com-monly, neoplasm.

Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio‐oto‐renal (BOR) syndrome gene locus (chromosome 8q13.3)

It has been suggested that branchio-oculo-facial (BOF) syndrome, deafness with ear pits, and associated conditions [MIM nos. 125100, 120502], and branchio-oto-renal (BOR) [MIM no. 113650] or Melnick-Fraser syndrome represent phenotypic variants of the BOR syndrome, which is inherited in an autosomal dominant (AD) manner and has variable clinical expression. Recently, the BOR gene was mapped to chromosome region 8q13.3 and its sequence was identified as the human homolog of the Drosophila eyes absent (EYA1) gene. We studied an extended family with AD inheritance of branchial arch anomalies (BAA), hearing loss, and ear pits, whose phenotype differed from that of patients with BOR in that none of the affected members had renal abnormalities or lacrimal duct stenosis. Fifteen affected members were studied; ear pits were present in all of them, whereas hearing loss and other BAA were present in 40 and 20%, respectively. Blood was collected from 31 patients; DNA was extracted by standard methods and amplified using primers from microsatellite sequences flanking the BOR locus on chromosome 8q13.3 (D8S1807, D8S530, and D8S543). Linkage analysis was performed under two models of AD inheritance with different penetrance: 100% and 80%. In both cases, the logarithm of odds(LOD) scores produced were significantly less than −2; exclusion of the 8q13.3 locus was also confirmed by multipoint LOD score analysis. We conclude that, in one large family with AD inheritance of BAA, hearing loss and ear pits, the BOR locus was excluded. This represents the first documentation of heterogeneity in branchio-oto anomalies, syndromes with phenotypes similar to BOR syndrome. Am. J. Med. Genet. 79:209–214, 1998. © 1998 Wiley-Liss, Inc.

Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3)

It has been suggested that branchio-oculo-facial (BOF) syndrome, deafness with ear pits, and associated conditions [MIM nos. 125100, 120502], and branchio-oto-renal (BOR) [MIM no. 113650] or Melnick-Fraser syndrome represent phenotypic variants of the BOR syndrome, which is inherited in an autosomal dominant (AD) manner and has variable clinical expression. Recently, the BOR gene was mapped to chromosome region 8q13.3 and its sequence was identified as the human homolog of the Drosophila eyes absent (EYA1) gene. We studied an extended family with AD inheritance of branchial arch anomalies (BAA), hearing loss, and ear pits, whose phenotype differed from that of patients with BOR in that none of the affected members had renal abnormalities or lacrimal duct stenosis. Fifteen affected members were studied; ear pits were present in all of them, whereas hearing loss and other BAA were present in 40 and 20%, respectively. Blood was collected from 31 patients; DNA was extracted by standard methods and amplified using primers from microsatellite sequences flanking the BOR locus on chromosome 8q13.3 (D8S1807, D8S530, and D8S543). Linkage analysis was performed under two models of AD inheritance with different penetrance: 100% and 80%. In both cases, the logarithm of odds (LOD) scores produced were significantly less than -2; exclusion of the 8q13.3 locus was also confirmed by multipoint LOD score analysis. We conclude that, in one large family with AD inheritance of BAA, hearing loss and ear pits, the BOR locus was excluded. This represents the first documentation of heterogeneity in branchio-oto anomalies, syndromes with phenotypes similar to BOR syndrome.

Abnormal ventricular looping and abnormal laterality of the atrial chambers are the main morphogenetic mechanisms of cardiac lesions in cultured rat embryos treated with retinoic acid.

To establish the early morphogenetic mechanism in retinoid induced cardiac lesions, we investigated the morphology of the heart in cultured rat embryos treated with retinoic acid (RA) at 9.0 and 9.5 days post coitum (d.p.c). Wistar rat embryos were treated with RA (2 x 10(-7) M) for 6 hours from the embryonic day equivalent of 9.0 or 9.5 d.p.c. After further culture in an RA free medium for 2.5 days, embryos were fixed and examined with a stereomicroscope and a scanning electron microscope. Sixty three embryos were treated at 9.0 d.p.c., 14 embryos were treated at 9.5 d.p.c. and 30 embryos were used as control. Abnormal ventricular looping was seen in 31 embryos (49.2%) from the group treated at 9.0 d.p.c., and isomerism of right appendages occurred in 15 (23.8%). Embryos treated with RA at 9.5 d.p.c. showed a low incidence of abnormal ventricular looping (14.3%). We could summarize those abnormal looping as three variants of each looping. The mildest form was hypoplasia of the right ventricle observed in 20 cases. Both the right and left ventricles in the second variant were shifted far to the left or right (10 cases). The third variant was a heart with generalized hypoplasia of both ventricles (3 cases). The incidence of branchial arch anomalies was higher at 9.5 d.p.c. than at 9.0 d.p.c. (71.4% and 30.2%, respectively). Abnormalities in the ventricular looping and the atrial laterality at 9.0 d.p.c. suggest that RA induces derangement in the development of laterality, while at 9.5 d.p.c., the abnormality of the migration of neural crest cells is the principal mechanism.

Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: Branchio‐oto‐costal syndrome?

Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: Branchio‐oto‐costal syndrome?

Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: Branchio-oto-costal syndrome?

We report on a family in which 3 sibs were affected with conductive deafness, bilateral preauricular and commissural lip pits, monolateral branchial fistula, and rib anomalies. On the basis of parental consanguinity, lack of clinical variability and affected subjects of both sexes, this condition seems to be inherited as an autosomal recessive trait. We suggest that these findings comprise a new autosomal recessive entity of branchial, auricular and costal anomalies, for which we suggest the acronym BOC (branchio-oto-costal) syndrome.

VACTERL with hydrocephalus and branchial arch defects: Prenatal, clinical, and autopsy findings in two brothers

VACTERL association is defined as a combination of vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies, in particular radial defects. In recent years hydrocephalus was observed in patients with apparent VACTERL association. This particular condition was recognized as a hereditary entity with poor prognosis. Both autosomal recessive and X-linked forms were described. Here we report prenatal, clinical and autopsy findings in 2 brothers with this syndrome, who had, in addition, branchial arch anomalies. The recurrence in this family suggests X-linked inheritance. Branchial arch defects have so far not been described as part of the VACTERL + H syndrome. This observation further supports that a variety of brain anomalies including hydrocephalus associated with VACTERL anomalies represents separate entities with a considerable recurrence risk. The use of the term VACTERL “association” for these conditions is misleading and is discouraged. © 1996 Wiley-Liss, Inc.

Localization of branchio‐oto‐renal (BOR) syndrome to a 3 Mb region of chromosome 8q

Branchio-oto-renal (BOR) syndrome is an autosomal dominant condition of branchial arch anomalies, deafness and renal dysplasia. Clinical manifestations tend to have considerable intrafamilial and interfamilial variability. Previous linkage studies had localized the gene responsible for BOR syndrome to a broad region of chromosome 8q. Using 10 microsatellite markers, we have further refined the localization of this disorder by establishing tight linkage to two markers, D8S279 and D8S530 (Zmax = 3.91 and Zmax = 2.83 respectively at theta = 0.00). These markers are within 1 cM of one another. Multipoint analysis, involving 7 loci, placed the gene between these markers, with a lod-1 confidence interval 0.7 cM proximal to D8S530 and 0.6 cM distal to D8S279.

Computed tomography of earpits-deafness syndrome.

Earpits-deafness syndrome is a congenital syndrome in which branchial arch anomalies are associated with hearing loss. The inheritance is autosomal dominant, and the anomalies consist of any or all of the following: auricular deformities, pre-auricular pits or sinuses, branchial fistulae or cysts, external auditory meatus atresia and conductive or mixed hearing loss. Renal anomalies have also been described in association with the syndrome (Melnick et al, 1976; Cremers & van Noord, 1980).

Symposium: Congenital anomalies of the middle ear: III. Congenital anomalies of the middle ear

Congenital anomalies of the middle ear have been considered rare. The tremendous volume of middle ear surgery performed during the last 15 years has brought attention to numerous anomalies of the facial nerve, ossicles, and middle ear cleft, suggesting that middle ear anomalies are not as rare as once believed. This paper discusses anomalies of the descending and horizontal facial nerve which have been previously reported. The literature of anomalies of the ossicles is reviewed. A very rare anomaly of the carotid artery presenting in the middle ear is described and its surgical treatment outlined. Two anomalies of the middle ear associated with other branchial arch anomalies are reported and their treatment results discussed.

Anomalies of the first branchial cleft

Summary Three cases of first branchial arch anomalies in young children are presented. The two different types occurring, respectively, in children and adults are described, and some points concerning the diagnosis and treatment of the former are discussed.

Anomalies of the first branchial cleft

Three cases of first branchial arch anomalies in young children are presented. The two different types occurring, respectively, in children and adults are described, and some points concerning the diagnosis and treatment of the former are discussed. Three cases of first branchial arch anomalies in young children are presented. The two different types occurring, respectively, in children and adults are described, and some points concerning the diagnosis and treatment of the former are discussed.

Classification for limbal dermoid choristomas and branchial arch anomalies. Presentation of an unusual case.

The first case recorded in the literature is presented of multiple findings of bilateral limbal dermoid choristomas, small hypopharynx, generalized lymphadenopathy including follicular conjunctivitis, cutaneous nevoid lesions, incontinentia pigmenti, incomplete alopecia, mental retardation, and growth retardation. The topic of dermoids is reviewed in detail both clinically and histologically. The neurocutaneous syndromes are discussed. A new classification is proposed for case reports of branchial arch anomalies with or without dermoids or any other outstanding features.

Multiple branchial arch anomalies. Case report and temporal bone study.

Multiple branchial arch anomalies consisting of bilateral microtia, external meatal atresia, complete cleft palate, and mandibular ankylosis may be explained by arrest in fetal development at six to eight weeks. Involvement of the distal branchial arches at this time in fetal development may result in malformations of the laryngeal cartilages. Failure of peripheral facial nerve formation and cochlear anomalies may be associated with these branchial arch anomalies, although they are of different embryologic origin. A detailed case is presented.