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Gross clubbing – Thickening of the whole distal (end part of the) finger (resembling a drumstick) Hypertrophic osteoarthropathy – Shiny aspect and striation of the nail and skin; Schamroth's sign or Schamroth's window test (originally demonstrated by South African cardiologist Leo Schamroth on himself) [16] is a popular test for clubbing.
The middle phalanges' (often those of the 2nd, 3rd and 5th digits of the hands) angel shape is caused by an abnormal development of the epiphysis, metaphysis, and diaphysis of said phalanges; the wings are formed by an abnormal dyaphysis, the angel's skirt is from a cone-shaped epiphysis, and the head is formed by an abnormal distal pseudoepophysis.
Trauma deformities may manifest as reduced joint function due to lack of coordination in phalangeal joints, such as proximal interphalangeal flexion and distal interphalangeal hyperextension in boutonnière deformity. [1] Besides trauma, another reason boutonnière deformity may develop is due to a chronic disease like rheumatoid arthritis. [1]
This deformity is caused by a widening of the epiphyseal plate of the fifth finger's distal phalange. [12] Another proposed cause involves the abnormal insertion of the flexor digitorum profundus in the volar area of the fifth finger's distal phalange. [13] It is thought to be an autosomal dominant trait with reduced penetrance. [14]
Facial anomalies included broad nasal bridge, microretrognathia, abnormal helices, and cleft palate. Other features included distal digital hypoplasia, lung hypoplasia, and urogenital abnormalities, including shawl scrotum, uterus bicornis, and renal cysts. They were discordant for diaphragmatic hernia, cleft lip, and Dandy–Walker anomaly.
Pycnodysostosis also causes problems that may become evident with time. Aside from the broken bones, the distal phalanges and the collar bone can undergo slow progressive deterioration. Vertebral defects may permit the spine to curve laterally resulting in scoliosis. The dental problems often require orthodontic care and cavities are common.
Brachydactyly type D is a skeletal condition which exhibits a 'partial fusion or premature closing of the epiphysis with the distal phalanx of the thumb', according to Goodman et alia (1965). [6] J.K. Breithenbecher (1923) found that distal phalanges of short thumbs were one-half the length of full-length thumbs, while R.M. Stecher (1957 ...
Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. The broad metaphyses are due to enlargement of the spongy inner layer of bone (trabecular bone). Although trabecular bone is expanded, the dense outermost layer ...