Congenital Deafness Associated with Onychodystrophy

Report of a further family with dominant deafness‐onychodystrophy (DDOD) syndrome

“…Features in common to the families reported by Feinmesser and Zelig [1961], Goodman et al, [1969], Moghadam and Statten, [1972], and Kondoh et al, [1999] and to this report include deafness and absent nails with more variable presence of brachydactyly, hypoplastic distal phalanges and bulbous distal phalanges. Of note, the family reported by Feinmesser and Zelig [1961] were affected sisters from a consanguineous family, both with normal intellect, suggestive of autosomal recessive inheritance. This may suggest genetic heterogeneity, or possibly gonadal mosaicism for an autosomal dominant condition.…”

Report of a further family with dominant deafness‐onychodystrophy (DDOD) syndrome

“…Features in common to the families reported by Feinmesser and Zelig [1961], Goodman et al, [1969], Moghadam and Statten, [1972], and Kondoh et al, [1999] and to this report include deafness and absent nails with more variable presence of brachydactyly, hypoplastic distal phalanges and bulbous distal phalanges. Of note, the family reported by Feinmesser and Zelig [1961] were affected sisters from a consanguineous family, both with normal intellect, suggestive of autosomal recessive inheritance. This may suggest genetic heterogeneity, or possibly gonadal mosaicism for an autosomal dominant condition.…”

Doors Syndrome

“…They reported two sisters affected by consanguineous marriage. [ 4 ] Until now more than 40 cases have been reported. The genetic basis of DOOR syndrome is still controversial, but it is suspected that the disease may be caused by a mutation in a gene in an unidentified part of the mitochondrial pathway associated with oxidative phosphorylation.…”

A Danish family with dominant deafness-onychodystrophy syndrome

“…In 1961 the first case report of familial deafness, onychodystrophy and strabismus was published. 2 It reported two affected sisters with consanguineous parents, suggesting autosomal recessive inheritance, but without mental retardation, excluding DOOR. jaundice and lethargy, but recovered quickly with phototherapy.…”

Report of a further family with dominant deafness‐onychodystrophy (DDOD) syndrome

“…Features in common to the families reported by Feinmesser and Zelig [1961], Goodman et al, [1969], Moghadam and Statten, [1972], and Kondoh et al, [1999] and to this report include deafness and absent nails with more variable presence of brachydactyly, hypoplastic distal phalanges and bulbous distal phalanges. Of note, the family reported by Feinmesser and Zelig [1961] were affected sisters from a consanguineous family, both with normal intellect, suggestive of autosomal recessive inheritance. This may suggest genetic heterogeneity, or possibly gonadal mosaicism for an autosomal dominant condition.…”

Doors Syndrome

“…They reported two sisters affected by consanguineous marriage. [ 4 ] Until now more than 40 cases have been reported. The genetic basis of DOOR syndrome is still controversial, but it is suspected that the disease may be caused by a mutation in a gene in an unidentified part of the mitochondrial pathway associated with oxidative phosphorylation.…”

A Danish family with dominant deafness-onychodystrophy syndrome

“…In 1961 the first case report of familial deafness, onychodystrophy and strabismus was published. 2 It reported two affected sisters with consanguineous parents, suggesting autosomal recessive inheritance, but without mental retardation, excluding DOOR. jaundice and lethargy, but recovered quickly with phototherapy.…”

Report of a further family with dominant deafness‐onychodystrophy (DDOD) syndrome

“…Features in common to the families reported by Feinmesser and Zelig [1961], Goodman et al, [1969], Moghadam and Statten, [1972], and Kondoh et al, [1999] and to this report include deafness and absent nails with more variable presence of brachydactyly, hypoplastic distal phalanges and bulbous distal phalanges. Of note, the family reported by Feinmesser and Zelig [1961] were affected sisters from a consanguineous family, both with normal intellect, suggestive of autosomal recessive inheritance. This may suggest genetic heterogeneity, or possibly gonadal mosaicism for an autosomal dominant condition.…”

Doors Syndrome

“…They reported two sisters affected by consanguineous marriage. [ 4 ] Until now more than 40 cases have been reported. The genetic basis of DOOR syndrome is still controversial, but it is suspected that the disease may be caused by a mutation in a gene in an unidentified part of the mitochondrial pathway associated with oxidative phosphorylation.…”

A Danish family with dominant deafness-onychodystrophy syndrome

“…In 1961 the first case report of familial deafness, onychodystrophy and strabismus was published. 2 It reported two affected sisters with consanguineous parents, suggesting autosomal recessive inheritance, but without mental retardation, excluding DOOR. jaundice and lethargy, but recovered quickly with phototherapy.…”