Familial combination of brachydactyly, type E and atrial septal defect, type II

Czeizel, A.; Göblyös, P

doi:10.1007/bf01995860

Cited by 9 publications

(4 citation statements)

References 4 publications

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“…Therefore, the similar frequencies between men and women documented in this study may be more representative of the actual sex distribution of the Type II accessory navicular because it eliminates the presentation bias inherent in clinical settings. The findings of the present study are also consistent with the numerous pedigrees that have established an autosomal dominant inheritance pattern for this trait (Wildervanck et al ., 1967; Czeizel & Goblyos, 1989; Kiter et al ., 2000; Dobbs & Walton, 2004).…”

Section: Discussionmentioning

confidence: 99%

“…Several family pedigrees have been established over the last three decades in an effort to document the inheritance pattern of the accessory navicular (Table 1), which McKusick (1966) first asserted as being autosomal dominant in his book on Mendelian inheritance. Although McKusick did not present any data to buttress his claim, recent studies seem to confirm that the accessory bone does, indeed, represent an autosomal dominant trait with incomplete penetrance (Wildervanck et al ., 1967; Czeizel & Goblyos, 1989; Kiter et al ., 2000; Dobbs & Walton, 2004). Kiter et al .…”

Section: Heritabilitymentioning

confidence: 99%

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Accessory navicular: A heritable accessory bone of the human foot

Offenbecker

Case

2010

Intl J of Osteoarchaeology

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The accessory navicular is a supernumerary bone of the human foot located medial to the navicular tuberosity and represents a secondary center of ossification that has failed to fuse to the main body of the navicular. Three forms of the accessory bone have been identified: Type I is an independent ossicle that is often embedded within the tibialis posterior tendon; Type II is a triangular accessory bone that attaches to the navicular tuberosity by means of a cartilaginous or fibrocartilaginous bridge; and Type III represents a fused Type II, which forms a hook-like protuberance extending from the tuberosity. The Type II accessory navicular is the most common of the three forms and is the most readily identifiable in skeletal material since it causes the navicular tuberosity to become abnormally flattened and porous. The purpose of this study was to describe the various manifestations of the accessory navicular in dry bone, to present and compare frequency data for several skeletal populations, and to consider questions of laterality and sex bias in trait expression. In total, the skeletons of 497 Danes, 460 Euro-Americans, 300 African Americans, 100 Japanese, and 205 Europeans were examined for the presence of the Type II accessory navicular. Overall frequencies for the five groups ranged from 2% in the African American sample to 5% in the Japanese sample. Since several family pedigrees have documented the accessory navicular as being an inherited skeletal defect, the relatively low frequency found in the present study makes this trait a potentially useful indicator of genetic relatedness within archaeological cemeteries. In addition, the trait was found to occur more often unilaterally than bilaterally and there was nearly equal incidence among males and females.

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Section: Discussionmentioning

confidence: 99%

Section: Heritabilitymentioning

confidence: 99%

Accessory navicular: A heritable accessory bone of the human foot

Offenbecker

Case

2010

Intl J of Osteoarchaeology

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“…[ 42 ] concluded that 'brachydactyly E is indistinguishable radiologically from the PHP-PPHP syndrome'. Short stature, round facies, secundum type of atrial septal defect and BDE (in which shortening of the metacarpals was most pronounced but not limited to the 4th metacarpal), were described in a kindred by Czeizel and Göblyös [ 43 ].…”

Section: Types Of Isolated Brachydactylymentioning

confidence: 99%

Brachydactyly

Temtamy

Aglan

2008

Orphanet J Rare Dis

142

148

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Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism.

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“…Vice versa, patients with ASD, particularly when a hereditary character exists, should be examined for musculoskeletal defects of their limbs [9]. Macroscopic examination frequently needs to be validated radiologically [13,14]. Genetic control is not mandatory in all heart-limb syndromes, if the phenotype is unequivocal [3].…”

mentioning

confidence: 98%