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Further delineation of Costello syndrome.
Teebi AS, Shaabani IS. Teebi AS, et al. Am J Med Genet. 1993 Aug 15;47(2):166-8. doi: 10.1002/ajmg.1320470204. Am J Med Genet. 1993. PMID: 8213898 Review.
Main manifestations included poor postnatal growth, relative macrocephaly, curly hair, distinct "coarse" face, mild mental retardation, happy and sociable personality, loose dark skin particularly of hands and feet, acanthosis nigricans, thin deep set nails, enamel …
Main manifestations included poor postnatal growth, relative macrocephaly, curly hair, distinct "coarse" face, mild mental retardatio …
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, Mojahedi F, Setoodeh A, Loh A, Tan YX, Escande-Beillard N, Malfait F, Reversade B, Gardeitchik T, Morava E. Kariminejad A, et al. Int J Mol Sci. 2017 Mar 15;18(3):635. doi: 10.3390/ijms18030635. Int J Mol Sci. 2017. PMID: 28294978 Free PMC article. Review.
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. ...Individuals with these conditions often …
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of thi …
Costello syndrome in two Brazilian children.
Pratesi R, Santos M, Ferrari I. Pratesi R, et al. J Med Genet. 1998 Jan;35(1):54-7. doi: 10.1136/jmg.35.1.54. J Med Genet. 1998. PMID: 9475096 Free PMC article. Review.
We report here two children, seen in the Genetic Division of the Brasilia University Hospital, showing the main features of the syndrome: "coarse" face, redundant skin on the feet and hands, hyperextensible hand and finger joints, curly hair, growth and psych …
We report here two children, seen in the Genetic Division of the Brasilia University Hospital, showing the main features of the syndrome: "c …