Shortened fifth medial phalanges

Abstract

A radiographic study was made of the left fifth medial phalanges of 200 Philadelphia Negro and 96 Chinese children. Twelve cases of abnormal shortening of this bone (defined, for the present, as less than half the length of the fourth medial phalanx) were found in the Chinese sample, while none were found in the Negroes. This trait, brachymesophalangy 5, in general seems to be characterized by short but well proportioned diaphyses and cone‐shaped epiphyses with very early union. Population surveys reported in the literature indicate that this trait is considerably more common in Mongoloid and American Indian populations than in Whites or Negroes. The mode of inheritance of this genetic trait is uncertain, but present evidence indicates that it may be a simple autosomal recessive.

Brachydactyly type A‐4 (Temtamy type) with short stature in a Japanese girl and her mother

“…A mode of transmission is consistent with the autosoma1 dominant pattern, as other reported cases with brachydactyly type A [Haws and McKusick, 1963;Hertzog, 1967;Fraire-Maia et al, 1980;Opitz and Gilbert, 1985;Osebold et al, 19851.…”

“…Patients with type A-2 and A-3 brachydactyly have anomalies at the 2nd and at the 5th middle phalanges, respectively, though no report can be found describing short stature in the 2 subtypes [Hertzog, 1967;FraireMaia, et al, 1980;McKusick, 1988;Buyse, 19901. On the other hand, our patients with brachydactyly type A-4, which is associated with both of the abnormal digits in the types A-2 and A-3, were markedly short.…”

Postnatal structure of the sella turcica in Down syndrome

“…Another aspect to be born in mind when evaluating sella turcica shape is that the sella turcica is preformed in cartilage tissue and that the cartilage-preformed bones, such as the humerus and the femur, are considerably shorter in Down syndrome fetuses than in fetuses with a normal genotype [Benacerraf et al, 1991;Johnson et al, 1993]. Phalangeal bones, also, especially the middle phalangeal bone on the fifth finger, are shorter [Hall, 1965;Hertzog, 1967;Hall and Ringertz, 1972;Stephens and Shepard, 1980;Kjaer et al, 1998]. Whether the biochemical composition of the cartilage tissue may affect the morphology of the sella turcica is not known.…”

Multiple Malignant Spiegler Tumors with Brachydactyly and Racket‐Nails

“…The brachydactyly observed in our patient and her mother was characterized by a shortening of the middle phalanx predominantly confined to the fifth finger of both hands; it could not be classified to A3 type brachydactyly, since clinodactyly was not present (Hertzog 1967). All three clinical features of the patient, i.e.…”