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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.
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.
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]
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.
abnormal plantar reflex: Kumar SP, Ramasubramanian D (December 2000). "The Babinski sign—a reappraisal". Neurol India. 48 (4): 314– 8. PMID 11146592: dorsiflexion of the hallux with fanning of the remaining phalanges upon soft stimulation of the lateral plantar surface of the foot Bainbridge reflex: Francis Arthur Bainbridge
About one third of children whose mothers are taking this drug during pregnancy typically have intrauterine growth restriction with a small head and develop minor dysmorphic craniofacial features (microcephaly and intellectual disability) and limb defects including hypoplastic nails and distal phalanges (birth defects).
Autoamputation of the distal phalanges is common and so is neuropathic joint degeneration. The NCV shows reduced or absent sensory nerve action potentials and nerve biopsy shows total loss of myelinated fibers and reduced numbers of unmyelinated fibers. It is inherited as an autosomal recessive condition.
Clinical features include gingival fibromatosis, hypoplasia of the distal phalanges, nail dysplasia, joint hypermobility, and sometimes hepatosplenomegaly. [7] The nose and pinnae are usually large and poorly developed, which give individuals with the syndrome characteristic facial features. Intellectual disability may also be seen.