The Physical Characteristics and Heredity of Short Thumbs

Stecher, Robert M.

doi:10.1159/000150970

Cited by 11 publications

(11 citation statements)

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“…Both unilateral as well as bilateral involvement of the first DP is noted in our family, a finding that is consistent with previous reports [Breitenbecher, 1923;Stecher, 1957;Goodman et al, 1965]. Studies have found unilateral thumb involvement in 20 to 50% of BDD cases, with right and left hands being equally affected [Stecher, 1957;Goodman et al, 1965;Gray and Hurt, 1984].…”

Section: Discussionsupporting

confidence: 92%

“…The findings in III-2 included bilateral short first MT as well as a short left fourth metatarsal. Previous studies have suggested that associated anomalies are uncommon in BDD [Breitenbecher, 1923;Stecher, 1957;Goodman et al, 1965]. When they occur, they are limited to hands and feet, and include short thirrd DP of the hand, short third, fourth, and fifth MCs and MTs, and short DPs of the great toes [Stecher, 1957].…”

Section: Discussionmentioning

confidence: 98%

“…Previous studies have suggested that associated anomalies are uncommon in BDD [Breitenbecher, 1923;Stecher, 1957;Goodman et al, 1965]. When they occur, they are limited to hands and feet, and include short thirrd DP of the hand, short third, fourth, and fifth MCs and MTs, and short DPs of the great toes [Stecher, 1957]. However, these studies of BDD were performed without the benefit of standardized MPPs, so more subtle shortening of other skeletal elements might have been escaped detection.…”

Section: Discussionmentioning

confidence: 99%

“…Previous reports based on expected segregation analysis have suggested that BDD has a reduced penetrance, with as many as 38% of obligate carriers, primarily males, showing no clinical sign of the disorder [Gray and Hurt, 1984]. Furthermore, BDD has the additional unusual characteristic of manifesting as a unilateral anomaly as often as a bilateral; approximately 25 to 50% of affected individuals have only one thumb affected based on clinical evaluation, with the right and left sides being equally affected [Hefner, 1924;Stecher, 1957;Goodman et al, 1965;Gray and Hurt, 1984].…”

Section: Introductionmentioning

confidence: 99%

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Clinical and molecular studies of brachydactyly type D

Robin¹,

Hurvitz²,

Warman³

et al. 1999

Am. J. Med. Genet.

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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. Linkage analyses were preformed between the BDD phenotype in this family and six loci known to contain genes involved in apical skeletal patterning. No statistically significant linkage was detected.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Clinical and molecular studies of brachydactyly type D

Robin¹,

Hurvitz²,

Warman³

et al. 1999

Am. J. Med. Genet.

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show abstract

“…There is only one report (Villaverde 1943) of a coloured subject showing the trait. According to Stecher (1957), the incidence in the United States is 0.41% in Caucasians and 0.1% in Negroes and also a larger incidence among females. Manabe (1938) may have described cases among people in Japan.…”

mentioning

confidence: 99%