By Heddie O. Sedano
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Grekin JN, Schwartz OD: Dyskeratosis congenita with pigmentation, dystrophia unguium and leukokeratosis oris. Arch Dermatol 85:124-215, 1962. Ortega JA, et al: Congenital dyskeratosis. Am ] Dis Child 124:701-705, 1972. Sirinavin C, Trowbridge AA: Dyskeratosis congenita: Clinical features and genetic aspects. Report of a family and review of the literature. / Med Genet 12:339-354, 1975. of glycolipid lipoidosis. The condition is inherited in an X-linked recessive manner, with full expression in males and partial expression in heterozygous females.
Generalized elastolysis. References Balboni FA: Cutis laxa and multiple vascular anomalies including multiple coarctation of the aorta. St Francis Hosp Bull 19:26-35, 1963. Beighton PH: The dominant and recessive forms of cutis laxa. / Med Genet 9:216-221, 1972. Byers PH, et al: An X-linked form of cutis laxa due to deficiency of lysyl oxidase; the collagen and elastin crosslinking enzyme. Birth Def, in press. Goltz RW, Huit AM: Generalized elastolysis (cutis laxa) and Ehlers-Danlos syndrome (cutis hyperelastica).
Affected individuals often present with thin, fine hair of normal distribution. The skin Gorlin RJ, Sedano HO: Cryptodontic brachymetacarpalia. Birth Def 7(7): 200-203, 1971. Temtamy S, McKusick VA: Synopsis of hand malformations with particular emphasis on genetic factors. Birth Def 5(3):125-184, 1969. 4 Hypodontia and Nail Dysgenesis The syndrome of hypodontia and nail dysgenesis was first reported in 1969 by Redpath and Winter. The condition is characterized by (1) fine hair, (2) oligodontia, and (3) hypoplasia or koilonychia of fingernails and toenails.