Inherited brachydactyly syndrome not affecting other
Brachydactyly, Combined types B and E; Pitt Williams
Twelve members in five
generations of a family with autosomal dominant inheritance of this subtype
of brachydactyly have been described. The syndrome is named after the
Members of this family have shortened metacarpals
and metatarsals IV and V. Broadened thumbs were described in some members,
as well as dysplastic fingernails (grooved and koilonychia-like) on the
affected fingers and toes. In 1951, Julia Bell classified the
brachydactylies in five main groups (A-E). This present form of
brachydactyly combines the features of type B and E. Type B involves index
to little fingers and is characterized by a symmetrical deformity with
hypoplasia or absence of the distal phalanges with absence or dysplasia of
the affected nails. Changes on the ulnar side are more pronounced than
changes on the radial side. In type E, one or more metacarpals are
shortened, either with or without shortening of the metatarsals.
No anesthetic implications arise from
the described features.
Brachydactyly is a common
feature of many syndromes. Its significance results from the association
with other abnormalities. If brachydactyly is found, a thorough clinical
examination is warranted, looking for other malformations that might have
specific implications for anesthesia.
Bell J: On brachydactyly and symphalangism: Introduction and
classification of cases. Treasury Hum Inherit 5:1, 1951.
Pitt P, Williams I: A new brachydactyly syndrome with similarities to Julia
Bell types B and E. J Med Genet