New dysmorphic syndrome with choanal atresia in siblings

Burn, John; McKeown, Carole; Wagget, J.; Bray, Rosemary L.; Goodship, Judith A.

doi:10.1097/00019605-199207000-00003

Cited by 21 publications

(26 citation statements)

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“…These features show striking similarity to patients with Burn-McKeown syndrome [Burn et al, 1992 Clin. Dysmorphol 1: 137-144] and confirm the existence of this rare condition.…”

mentioning

confidence: 58%

“…choanal stenosis, ventriculo-septal defect, and prominent ears. The facial phenotype, which is an important diagnostic feature, was different either representing the wide spectrum of Differential diagnoses suggested in our patients were CHARGE association (Tellier et al, 1998) and Treacher Collins syndrome (TCS) (Dixon, 1995), both discussed also in Burn et al (1992). To make the diagnosis of CHARGE association, four of the major features (coloboma of iris or retina, heart defects, atresia of the choanae, retardation of growth and development, genital anomalies, ear anomalies) should be present.…”

Section: Discussionmentioning

confidence: 82%

“…Burn-McKeown syndrome (Burn et al, 1992) is a rare condition with multiple congenital anomalies and a typical facial phenotype characterized by a remarkable intrafamilial variation. To the best of our knowledge, only eight patients -including the two brothers of this report -have been described so far.…”

Section: Discussionmentioning

confidence: 99%

“…However, three male sib pairs -including the brothers described here -have been reported. The only female patient (Burn et al, 1992) had a chromosomal aberration [46,XX,r(18)(p14q23)] and a slightly different facial phenotype. In view of this, Xchromosomal recessive inheritance has to be discussed.…”

Section: Discussionmentioning

confidence: 99%

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Two brothers with Burn-McKeown syndrome

Wieczorek

Teber

Lohmann

et al. 2003

Clinical Dysmorphology

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We report on two brothers with normal intelligence, bilateral choanal atresia, and a characteristic pattern of facial dysmorphic features consisting of hypertelorism, lower lid coloboma, narrow palpebral fissures, prominent nasal bridge, small mouth with thin lips, and protruding ears. These features show striking similarity to patients with Burn-McKeown syndrome [Burn et al., 1992 Clin. Dysmorphol 1: 137-144] and confirm the existence of this rare condition. These brothers show some additional features that were not previously reported in patients with this syndrome including median cleft palate with oronasal fistula, preauricular tag, hypomimic face, and hypoplastic unilateral kidney, thus indicating that the clinical spectrum of this entity is broader.

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“…These features show striking similarity to patients with Burn-McKeown syndrome [Burn et al, 1992 Clin. Dysmorphol 1: 137-144] and confirm the existence of this rare condition.…”

mentioning

confidence: 58%

Section: Discussionmentioning

confidence: 82%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Two brothers with Burn-McKeown syndrome

Wieczorek

Teber

Lohmann

et al. 2003

Clinical Dysmorphology

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“…In one patient and his brother, we established the diagnosis Burn -McKeown syndrome. 26,27 Mutational analysis Genomic DNA was extracted from blood samples using Nucleon DNA extraction kits (Amersham Health, Ismaning, Germany). We used direct sequencing to identify mutations in the 27 exons and flanking splice sites of the TCOF1 gene.…”

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confidence: 99%

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

et al. 2004

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To define the range of phenotypic expression in Treacher Collins syndrome (TCS; Franceschetti-Klein syndrome), we performed mutation analysis in the TCOF1 gene in 46 patients with tentative diagnosis of TCS and evaluated the clinical data, including a scoring system. A total of 27 coding exons of TCOF1 and adjacent splice junctions were analysed by direct sequencing. In 36 patients with a clinically unequivocal diagnosis of TCS, we detected 28 pathogenic mutations, including 25 novel alterations. No mutation was identified in the remaining eight patients with unequivocal diagnosis of TCS and 10 further patients, in whom the referring diagnosis of TCS was clinically doubtful. There is no overt genotype-phenotype correlation except that conductive deafness is significantly less frequent in patients with mutations in the 3 0 part of the open reading frame. Inter-and intrafamilial variation is wide. Some mutation carriers, parents of typically affected patients, are so mildly affected that the diagnosis might be overlooked clinically. This suggests that modifying factors are important for phenotypic expression. Based on these findings, minimal diagnostic criteria were defined: downward slanting palpebral fissures and hypoplasia of the zygomatic arch. The difficulties in genetic counselling, especially diagnosis of family members with a mild phenotype, are described.

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Molecular Genetics of Human Facial Dysostoses

Czeschik

Wieczorek

2014

Encyclopedia of Life Sciences

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Human facial dysostoses comprise mandibulofacial (MFDs) and acrofacial dysostoses (AFDs). Both types are characterised by similar craniofacial dysmorphisms, which are assumed to be caused by an abnormal development of the neural crest cells. Craniofacial anomalies consist of downslanting palpebral fissures, lower eyelid coloboma with or without absence of lower eyelashes medial to the defect, hypoplasia of the zygomatic complex, micrognathia and microtia often associated with hearing loss. The facial anomalies are associated with limb anomalies in the AFDs, which are preaxial, postaxial or cannot be classified into one of these groups. The molecular basis for most of the MFDs and AFDs is unknown. For Treacher Collins syndrome ( TCOF1, POLR1D and POLR1C ) and MFD type Hutterite ( TCOF1 ), the molecular basis is known which is also true for three of the AFDs, Nager syndrome ( SF3B4 ), Miller syndrome ( DHODH ) and AFD type Guion‐Almeida ( EFTUD2 ). Key Concepts: In human facial dysostoses, the development of the structures of the first and second branchial arches is disturbed. Facial dysostoses can be subdivided into those with normal extremities, the mandibulofacial dysostoses (MFDs), and those with anomalies of limbs, the acrofacial dysostoses. TCOF1 mutations are causal for Treacher Collins syndrome and MFD type Hutterite. POLR1D and POLR1C mutations are causal for Treacher Collins syndrome. SF3B4 mutations are causal for Nager syndrome. EFTUD2 mutations are causal for ADGA. DHODH mutations are causal for Miller syndrome. EVC and EVC2 mutations are causal for Weyers syndrome.

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New dysmorphic syndrome with choanal atresia in siblings

Cited by 21 publications

References 0 publications

Two brothers with Burn-McKeown syndrome

Two brothers with Burn-McKeown syndrome

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Molecular Genetics of Human Facial Dysostoses

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