By Heddie O. Sedano
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Extra resources for Oral Manifestations of Inherited Disorders
The facial appearance is completed with the presence of bilateral cataracts, generally appearing between the fourth and the seventh year of life. Oral Structures. Oral manifestations are very infrequent in this condition. A number of cases of the Rothmund-Thomson syndrome have been reported with dental findings such as microdontia, enamel hypoplasia, delayed abnormal eruption, hypodontia, and supernumerary teeth. Bifid uvula also has been seen in a few cases. Systemic Features. Mental development is slightly below normal.
5 Cutis Laxa Cutis laxa is characterized by (1) skin which hangs in loose folds, (2) emphysema, (3) hernia, and often (4) diverticulae of various organs. Although the term "cutis laxa" was initially used to refer to Ehlers-Danlos syndrome or cutis hyperelastica, within the past two decades the name has been restricted to conditions in which the skin hangs in folds. Although it may occur later in life (acquired form) as a postinflammatory cutaneous phenomenon, there appear to be three hereditary forms, the more common form being a severe autosomal recessive type.
6. Shortening of metacarpals is manifested by absence of several knuckles. The patient's father had a similar abnormality. 28 Oral Manifestations of Inherited Disorders Laboratory Aids. Serum calcium, phosphorus, and the EllsworthHoward test are all within normal values. mode of inheritance; however an autosomal recessive form may also exist, suggesting genetic heterogeneity. Faciès. References Goeminne L: Albright's hereditary poly-osteochondrodystrophy, (pseudo-pseudohypoparathyroidism with diabetes, hypertension, arteritis and polyarthrosis).
Oral Manifestations of Inherited Disorders by Heddie O. Sedano