Craniotubular dysplasia with severe postnal growth retradation, mental retradation, ectodermal dysplasia, and loose skin: lenz-majewski-like syndrome

American Journal of Medical Genetics

Volumn 71, Issue 1, 1997, Pages 87-92

  Nishimura, Gen ^a,b   Harigaya, Akira ^a,b   Kuwashima, Makoto ^a,b   Kuwasmmal, Shigeko ^a,b  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

^b Kiryu Public General Hospital   (Japan)

Author keywords

Craniotu bular dysplasia; Ectodermal dysplasia; Loose skin; Mental retardation; Postnatal growth retardation; Skeletal dysplasia

Indexed keywords

ARTICLE; BONE DYSPLASIA; CASE REPORT; ECTODERMAL DYSPLASIA; ENAMEL HYPOPLASIA; EXOPHTHALMOS; FAILURE TO THRIVE; GROWTH RETARDATION; HUMAN; HYPEROSTOSIS; INFANT; LENZ MAJEWSKI SYNDROME; MALE; MENTAL DEFICIENCY; MICROGNATHIA; OSTEOPENIA; POSTNATAL DEVELOPMENT; PRIORITY JOURNAL; SKULL MALFORMATION;

ADULT; ECTODERMAL DYSPLASIA; FEMALE; GROWTH DISORDERS; HUMANS; MALE; MENTAL RETARDATION; SHORT RIB-POLYDACTYLY SYNDROME; SKIN ABNORMALITIES; SYNDROME;

EID: 0030946822     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Cantü JM, Sanchez-Corona J, Hernandes A, Nazara Z, Garcia-Cruz D (1982): Individualization of a syndrome witn montai deficiency, macrocranium, peculiar fades, and cardiac and skeletal anomalies. Clin Genet 22:172-179.
2. Chapman S (1988): The trichothiodysirophy syndrome of PoUitt. Peciatr Sadioî 18:154-156.
3. Goodman KM, Duksin D, Legum C, Bat-Miriam Katznelson M, Eshaghpour S, Rozin M, Hertz M (1982): The wrinkly fekin syndrome and cartilage-hair hypopiasia (a new variant?) in siba of the same family. In Papadatos CJ, Bartsocas CS ;eds): Skeletal Dysplasius. New York: Alan R. Liss, pp 205-214.
4. Gorlin R
5. Gorlin RJ, Whitley CB (1983): Lenz-Majewski syndrome. Radiology 149: 129-131.
6. Gorlin RJ, Spranger J, Koszalka MF (1969): Genetic Craniotubular Bone Dysplasias and Hypcrostoses: A Critical Analysis. New York: The National Foundation-March of Dimes. BD:OAS V (41:79-95.
7. Johnson F, Flores C, Dodgson WB (1978): Case report 50. Skeletal Radiol 2:185-186.
8. Spranger J, Langer LO, Wiederaann HR (1974): Bone Dysplasias. Philadelphia: W.B. Saunders, pp 295-297, p 319.
9. Taybi H, Lachman RS (1990): Radiology of Syndromes, Metabolic Disorders, ana Skeletal Dysplasias, Fourth Edition. St. Louis: Mosby, pp 359-360.
10. Yamamoto T, Kurihara N, Yamaoka K, Oxono K, Okada M, Yamamoto K, Matsumoto S, Michigami T, Ono J, Okada S (1993): Bone marrowderived osteociast-like cells from a patient with craniometaphyseal dyspiasia lack expression of osteoclast-reactive vacuoiar proton pump. J Clin Invest 91:362-367.