Recessively inherited brachydactyly type C

Recessively inherited brachydactyly type C.

The Bell classification of brachydactyly' divides this group of conditions into types Al to A5, B, C, D, and E. Fitch2 in 1979 suggested that types A4 to A5 be omitted because the latter is indistinguishable radiologically from type B, while type A4 is possibly a mild expression of Al. She suggested that type E should be further subdivided depending on which metacarpals are involved. The table ...

Recessively inherited myotonia congenita.

Recessively inherited coagulation disorders.

Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecu...

Brachydactyly type C associated with shortening of the hallux.

A four generation autosomal dominant pedigree of brachydactyly type C is presented with its radiological features. The hands and feet were similarly affected. All the subjects showing these changes had shortening of the big toes and, in addition, had cupped ears.

A recessively inherited mixed polyneuropathy of early onset.

Case Reports Case 1. A 17-year-old girl with the chief complaint of difficulty in walking. She was the product of an uneventful pregnancy and normal delivery at full term. She sat at 1 year but did not start to walk until the age of 4. From the start walking appeared awkward and she fell frequently, but she progressed slowly and when seen she could still walk quite easily without assistance. Th...