Info

Organs and Tissues

Procedures

Possible or Expected Findings

External examination

External examination

Soft tissues Bones

Record extent of pigmentation, facial features, and primary and secondary sex characteristics.

Prepare skeletal roentgenograms.

For removal, prosthetic repair, and specimen preparation, see p. 95. Record size of apertures of cranial nerves in base of skull.

Unilateral skin pigmentation and precocious puberty in females (Albright's syndrome), less commonly in males. Abnormal facial features caused by distortion of facial bones. Cystlike lesions in metaphyses and shafts of bone; fractures; deformities. Myxomas.

See above under "External examination." Encroachment of cranial nerves.

Dysplasia, Renal (See "Cyst(s), renal.")

Dysplasia, Thymic (See "Syndrome, primary immunodeficiency.") Dystonia, Torsion (See "Syndrome, Dystonia.")

Dystrophy, Duchenne's Progressive muscular (See "Dystrophy, muscular.") Dystrophy, Muscular

Synonyms and Related Terms: Becker's muscular dystrophy; congenital muscular dystrophy; Duchenne's progressive muscular dystrophy; dystrophinopathy; Emery-Dreifuss mucular dystrophy; facioscapulohumeral dystrophy; limb girdle dystrophy; myotonic muscular dystrophy.

Organs and Tissues

Procedures

Possible or Expected Findings

External examination

Skeletal muscle

Record pattern of scalp hair. Record status of skeletal musculature.

For sampling and specimen preparation, see p. 80. Dystrophin staining of the sarcolemma is absent in Duchenne's muscular dystrophy and patchy in Becker's dystrophy.

Frontal baldness (in myotonic muscular dystrophy).

Atrophy and wasting of muscles (generalized or local: predominantly distal in myotonic muscular dystrophy). Pseudohypertrophy of calf muscles in Duchenne's muscular dystrophy. Dystrophic changes include variations in fiber size, fiber degeneration and regeneration, peri- and endomysial fibrosis, and fatty replacement of muscle.

Reference

1. Engel AG, Yamamoto M, Fischbeck KH. Dystrophinopathies. In: Myology, 2nd ed., vol. 2. Engel AG, Franzini-Armstrong C, eds. MacGraw-Hill, New York, 1994, pp. 1130-1187.

Dystrophy, Myotonic Muscular (See "Dystrophy, muscular.")

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