Brachydactyly type C associated with shortening of the hallux.

Rowe-Jones, Julian; Moss, A.L.H.; Patton, Michael A.

doi:10.1136/jmg.29.5.346

Cited by 9 publications

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References 6 publications

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“…Shortening and inward rotation of halluces was present in one patient and metacarpals were shortened in two affected individuals. No other accompanying skeletal or non‐skeletal features were present as reported in other BDC kindreds, particularly no talipes valgus [Haws, 1963], Perthes disease [Robinson et al, 1968], hip dysplasia [Fitch et al, 1979a], small cup‐shaped ears [Rowe‐Jones et al, 1992], or spine deformities [Savarirayan et al, 2003]. Short stature was observed in some members of the family but appeared to occur independently from the mutation status.…”

Section: Discussionmentioning

confidence: 99%

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1

Schwabe

Türkmen

Leschik

et al. 2003

American J of Med Genetics Pt A

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Brachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little finger with hyperphalangy, usually of the index and middle finger. Heterozygous mutations of the cartilage derived morphogenetic protein-1 (CDMP1) resulting in a loss of function have been reported in BDC. We here describe a large kindred with a semi-dominant form of BDC and pronounced ulnar deviation of the second and third digits. In this family a novel homozygous missense mutation was identified (517A > G) changing methionine to valine at amino acid position 173. The mutation is located within a highly conserved seven amino acid region of the prodomain of CDMP1. Hand radiographs of heterozygous mutation carriers showed mild shortening of the metacarpals IV and V; a finding confirmed by the analysis of their metacarpophalangeal profiles (MCPPs). The mutation described here points toward an important function of the prodomain for the folding, secretion, and availability of biologically active CDMP1.

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Section: Discussionmentioning

confidence: 99%

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1

Schwabe

Türkmen

Leschik

et al. 2003

American J of Med Genetics Pt A

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Clinical and locus heterogeneity in brachydactyly type C

et al. 1997

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Brachydactyly type C is characterized by shortness of the second and fifth middle phalanges and the first metacarpal. It is inherited as an autosomal dominant trait, and is noted for its widely variable clinical phenotype both within and between families. In most families involvement is limited to the hands. However, in some families additional skeletal and non-skeletal findings have been reported. We report on 12 affected members from a 5 generation kindred that segregates a brachydactyly type C phenotype. All affected individuals had shortness principally affecting the second and fifth phalanges and first metacarpal. However, the metacarpal-phalangeal profile indicated that other digital elements were short as well. In addition, one affected individual had a bilateral Madelung deformity, but none had foot involvement. No other non-skeletal findings cosegregated with brachydactyly in this family. Recently, a gene for brachydactyly type C has been localized to 12q24. This was done by studying a large kindred first reported by Haws [1963], which manifests both hand and foot anomalies. Here we present linkage data which excludes the 12q24 locus in our kindred, indicating locus heterogeneity as one explanation for the interfamilial variability described in brachydactyly type C.

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Patterns of ossification in the manus of the harbor porpoise (Phocoena phocoena): Hyperphalangy and delta‐shaped bones

Dawson

2003

Journal of Morphology

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With the transition from terrestrial to aquatic habitats, cetacean forelimbs have undergone significant modifications in bone morphology and soft tissue distribution. Some, but not all, of these modifications are also demonstrated in other lineages of extant and extinct secondarily aquatic tetrapods. This study examines the ontogenetic pattern of ossification of the manus of the harbor porpoise (Phocoena phocoena), using plain film radiography. Two modifications examined are hyperphalangy (number of phalanges per digit increased beyond the typical mammalian number) and the morphology of delta-shaped bones. Hyperphalangy in Phocoena phocoena is apparent in digits 2 and 3. Phalangeal counts in all digits are variable (sometimes between the right and left flippers of the same individual) and are not necessarily correlated with age. Phalangeal ossification and epiphyseal fusion proceeds along the proximo-distal axis within each digit. In addition, digits 2 and 3 are at a more advanced stage of ossification than more abaxial digits. Delta-shaped bones appear to be a normal stage in the ossification of phalanges in all digits except the third, and may persist in the adult in certain digits. In humans, this morphology is a developmental anomaly usually associated with other malformations, such as polydactyly or syndactyly. Delta-shaped bones in the cetacean manus display a consistent orientation and the process by which they are formed may be similar to that in extinct marine reptiles.

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Brachydactyly type C associated with shortening of the hallux.

Cited by 9 publications

References 6 publications

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1

Clinical and locus heterogeneity in brachydactyly type C

Patterns of ossification in the manus of the harbor porpoise (Phocoena phocoena): Hyperphalangy and delta‐shaped bones

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