Inherited Abnormalities of the Fingers

Brachydactyly and Pseudo-Pseudohypoparathyroidism

“…3 suggested that shortened fifth metacarpals may occasionally be associated with shortened fifth middle phalanges. In the same manner, shortened fourth metacarpals and/or metatarsals also occasionally occur in pedigrees of shortened first distal phalanges (stub thumbs or brachytelophalangy 1) (Hefner, 1924;Stecher, 1957;Goodman et al, 1965), while Temtamy reported a pedigree of brachydactyly involving only the second and fifth middle phalanges (McKusick, 1966). It is of interest to note that there are four bones in the hand which can and do exhibit independent inherited shortening without other phalangeal or metacarpal involve-ment: the fifth middle phalanx, in clinodactyly (Bell's type A3) and in the cone epiphyses-early union variation reported here (which can be provisionally designated type A4 pending an investigation of its relationship to clinodactyly), the second middle phalanx (Bell's type A2), the first distal phalanx (Bell's type D), and the fourth metacarpal (type E i ) .…”

A tribute to our teacher, Dr. Judith Hall: A child with the trait of the Earl of Shrewsbury

“…BMPs have a major role in promoting mesenchymal cell proliferation and differentiation into chondroblasts and they are essential for joint formation through induction and regulation of apoptosis at future joints in the developing limb [Zou and Niswander, 1996]. The discovered insights into the role of BMP antagonists gives relevance to the postulate of Hefner [1924] of the absence of a normal inhibiting influence as the cause of excessive ossification resulting in fusion of the PIP joints. Marcelino et al [2001] discovered that heterozygous missense mutations in SYM1 reduced the secretion of noggin dimers in transfected COS‐7 cells, but the missense mutation in the more severe SYNS1 abolished the secretion of functional noggin dimers.…”