The major locus for dominant preaxial polydactyly in humans has been mapped to 7q36. In mice the dominant Hemimelic extra toes (Hx) and Hammertoe (Hm) mutations map to a homologous chromosomal region and cause similar limb defects. The Lmbr1 gene is entirely within the small critical intervals recently defined for both the mouse and human mutations and is misexpressed at the exact time that the...

We describe a nine month old boy with failure to thrive, developmental delay, bilateral cleft lip and palate, and left preaxial polydactyly. The features are similar to those in a child described by Howard and Young and may be the second case of a previously unknown syndrome.

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few. (J Med Ge...

Oral administration (3 mg/day) of thalidomide during the dedifferentiation and early limb-bud stages of newt forelimb regeneration produced a variety of specific limb deformities. Proximal and preaxial skeletal elements were the most severely malformed, e.g. preaxial hemimelia, severe proximal deformities, and preaxial polydactyly. Likewise, oral, daily doses (3 mg) of the teratogenic analogue,...

An invisibly small thumb-twitch increased in rate of occurrence when it served, via electromyographic amplification, to terminate or postpone aversive noise stimulation. Subjects remained ignorant of their behavior and its effect. Their cumulative response curves resembled those obtained in similar work with animals. Other subjects, informed of the effective response, could not produce it delib...

Polydactyly is a fairly common congenital condition of the foot and is characterized literally by supernumerary toes (digit or metatarsal). The frequency of polydactyly varies widely among populations. It may be an isolated condition or part of a congenital syndrome. Polydactyly is generally classified into three major groups: medial ray (preaxial), central ray and lateral ray (postaxial). The ...

An infant with an interstitial deletion 46,XY, del(9)(pter leads to q22::q32 leads to qter) is described. Clinical features included abnormal craniofacies with hypotelorism, narrow palpebral fissures, sclerocornea, deep vertical groove, and supraorbital ridge hypoplasia. There was unilateral preaxial polydactyly and toe syndactyly. Generalised hirsutism was noted. The infant had surgery for duo...

Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third metacarpal, median cleft lip, fatty hamartomas on the dorsum of the tongue, conductive hearing loss, and unilateral or bilateral renal agenesis. This probably autosomal recessive syndrome could be a further example of the ...