1999
DOI: 10.1002/(sici)1096-8628(19990806)85:4<413::aid-ajmg20>3.0.co;2-c
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Clinical and molecular studies of brachydactyly type D

Abstract: We report on the clinical manifestations in six affected individuals from a four-generation family that segregates brachydactyly type D (BDD). All affected individuals have either bilateral and symmetric or unilateral first distal phalangeal hypoplasia. Metacarpal-phalangeal profiles show that some affected individuals also have a more generalized involvement of the apical skeleton. However, other than first distal phalangeal hypoplasia, there is no consistent pattern of associated skeletal involvement. Linkag… Show more

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Cited by 3 publications
(3 citation statements)
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“…Indeed, previous studies of BDE include mention of affected distal phalanges of the first digit (Bell, ; Goodman et al ; Hefner, ; Stecher, ). Similarly, studies of BDD have documented involvement of the metacarpals (e.g., Goodman et al ; Hefner, ; Robin et al ; Stecher, ).…”
Section: Phenotypic and Genetic Overlap Between Bdd And Bdementioning
confidence: 89%
“…Indeed, previous studies of BDE include mention of affected distal phalanges of the first digit (Bell, ; Goodman et al ; Hefner, ; Stecher, ). Similarly, studies of BDD have documented involvement of the metacarpals (e.g., Goodman et al ; Hefner, ; Robin et al ; Stecher, ).…”
Section: Phenotypic and Genetic Overlap Between Bdd And Bdementioning
confidence: 89%
“…Penetrance is complete in females and incomplete in males (Gray and Hurt 1984). No significant linkage with six loci known to contain genes involved in apical skeletal patterning has been demonstrated (Robin et al 1999). A wide, sometimes bifid, short distal phalanx of the thumb is seen in brachydactyly B (OMIM 113000), a condition with shortening of all the distal phalanges.…”
Section: ᭤ [Small/absent Thumb]mentioning
confidence: 99%
“…BDD is a relatively common deformity, with a reported prevalence ranging from 0.41% to 4% in different populations (Goodman et al., 1965; Temtamy and Aglan, 2008). The inheritance pattern of BDD is autosomal dominant with incomplete penetrance (Gray and Hurt, 1984; Robin et al., 1999). It can occur either bilaterally or unilaterally in male and female individuals, with approximately 75% bilaterally affected (Gray and Hurt, 1984).…”
Section: Introductionmentioning
confidence: 99%